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
FAM21C	253725	broad.mit.edu	37	10	46272820	46272820	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:46272820A>G	uc001jcu.3	+	21	2360	c.2242A>G	c.(2242-2244)Agt>Ggt	p.S748G	FAM21C_uc001jcs.2_Intron|FAM21C_uc010qfk.2_Missense_Mutation_p.S748G|FAM21C_uc010qfi.2_Intron|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	748										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGGTTGAGAGTGCCAAGGA	0.428000													8	140					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025333	207025333	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207025333T>C	uc002vbg.1	+	2	214	c.102T>C	c.(100-102)gaT>gaC	p.D34D	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.D34D|EEF1B2_uc002vbh.1_Silent_p.D34D|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	34	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CACAAGCAGATGTGGCAGTAT	0.458000													20	60					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517405	34517405	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34517405C>T	uc003zum.3	+	18	2134	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	647					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATTGTGGGCGATGACCGTG	0.532000									Kartagener syndrome				13	37					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149831996	149831996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:149831996C>T	uc004fef.4	+	13	1634	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Nonsense_Mutation_p.R483*|MTM1_uc011mxz.2_Nonsense_Mutation_p.R405*|MTM1_uc010nte.3_Nonsense_Mutation_p.R388*	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	520	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373000													8	33					0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064719	129064719	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129064719G>A	uc011kov.2	+	13	1628	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	AHCYL2_uc003vot.3_Missense_Mutation_p.R521H|AHCYL2_uc003vov.3_Missense_Mutation_p.R419H|AHCYL2_uc011kox.2_Missense_Mutation_p.R419H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	522					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CACTAGGGCCGCCTGCTGAAC	0.493000													17	79					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420591	27420591	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:27420591G>T	uc003njj.3	-	4	1558	c.747C>A	c.(745-747)ccC>ccA	p.P249P	ZNF184_uc010jqv.3_Silent_p.P249P|ZNF184_uc003nji.3_Silent_p.P249P	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P249P(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACATTTGTAGGGTTTTTCTC	0.348000													47	117					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305556	99305556	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99305556T>C	uc003uru.3	-	11	1398	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	432					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAAGGGTGTGTATATGTAAGG	0.388000													7	162					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140968004	140968004	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140968004G>A	uc004cog.3	+	31	4878	c.4733G>A	c.(4732-4734)cGc>cAc	p.R1578H	CACNA1B_uc022bqn.1_Missense_Mutation_p.R1578H|CACNA1B_uc004coi.3_Missense_Mutation_p.R792H|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1580					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.R1580H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGCTGCTCCGCCAGGGCTAC	0.572000													10	126					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824040	34824040	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:34824040G>A	uc003oju.4	+	9	1379	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	382								p.R382C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATTGGGTACGCCACTGTGAG	0.468000													49	160					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1470989	1470989	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:1470989G>A	uc003jcm.3	-	11	1347	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	410	EF-hand 1.				phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCCGGCAGACGACAGACAGGG	0.657000													40	103					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75140296	75140296	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:75140296G>A	uc022agi.1	-	7		c.1337C>T			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						CACAGGTAGCGTAGAAAATAA	0.443000													7	116					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228166	72228166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72228166G>A	uc002llq.3	+	3	590	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	127					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAAAGGCACCGTGTGCTTCTA	0.602000													12	194					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137206474	137206474	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137206474G>A	uc011cye.2	+	1	151	c.134G>A	c.(133-135)cGc>cAc	p.R45H	MYOT_uc003lbv.3_Missense_Mutation_p.R45H|MYOT_uc011cyg.2_Intron|MYOT_uc011cyh.2_Intron	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	45					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.R45S(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCAGCCCCGCCAGTGTACA	0.537000													58	76					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730604	37730604	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:37730604G>A	uc003xkm.2	-	3	1772	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	572	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557000													29	87					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24760345	24760345	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24760345C>T	uc001woj.2	-	8	1074	c.805_splice	c.e8+1	p.G269_splice	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_Splice_Site|DHRS1_uc001wok.3_Splice_Site_p.G269_splice	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	269						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GGGTCCTCACCGTCCACATCC	0.597000													8	32					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2691855	2691855	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2691855C>T	uc003smp.3	+	7	1093	c.906C>T	c.(904-906)cgC>cgT	p.R302R	TTYH3_uc010ksn.3_Silent_p.R22R|TTYH3_uc003smq.3_Silent_p.R131R	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	302						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCTCGCCCCGCGCCGCCAACC	0.642000													7	52					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:173822937G>A	uc001gjh.2	+	14	2139	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	523					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding	p.R523S(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388000													24	66					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638931	55638931	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:55638931C>T	uc003pcq.3	-	3	1655	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	BMP5_uc011dxf.2_Missense_Mutation_p.V315M	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	315					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTCTCACGGATCGAAGA	0.468000													32	108					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:16340073G>A	uc001mme.3	-	2	436	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	SOX6_uc001mmd.3_Missense_Mutation_p.R125C|SOX6_uc001mmf.3_Missense_Mutation_p.R122C|SOX6_uc001mmg.3_Missense_Mutation_p.R122C|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Missense_Mutation_p.R122C|SOX6_uc001mmj.3_Missense_Mutation_p.R122C	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	122					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502000													71	151					0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834316	66834316	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66834316C>T	uc001ojv.3	+	2	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	110					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617000													36	83					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896622	31896622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31896622C>T	uc003nyf.3	+	2	634	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R124W|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.R95W|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTTCATATTGCGGGGCTCGCC	0.567000													27	71					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200866	32200866	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32200866C>T	uc011alu.2	+	16	1384	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	DEPDC5_uc011als.2_Silent_p.G394G|DEPDC5_uc003als.3_Silent_p.G394G|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.G394G|DEPDC5_uc003alr.2_Silent_p.G394G|DEPDC5_uc011alt.2_Silent_p.G366G	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	394					intracellular signal transduction			p.G394G(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCGTCTGGGCGATGACTATA	0.453000													19	181					0	0	1	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1192812	1192812	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:1192812G>A	uc003skd.4	-	4	649	c.348C>T	c.(346-348)tgC>tgT	p.C116C	ZFAND2A_uc003skc.3_Silent_p.L111L			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	0						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		ACCATCTGCAGCATCTCTTTC	0.483000													6	78					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451235	33451235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33451235C>T	uc002xay.3	-	1	329	c.286G>A	c.(286-288)Gca>Aca	p.A96T	GGT7_uc002xaz.1_Missense_Mutation_p.A113T|GGT7_uc002xba.1_Missense_Mutation_p.A96T	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	96					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCGGCCGCTGCGGCGGAGAAC	0.672000													13	26					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36734841	36734841	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:36734841C>T	uc002hqd.3	-	1	451	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	SRCIN1_uc002hqh.1_Missense_Mutation_p.A110T	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	83					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	p.D75D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTGCGGTCGGCGTCCGCCTTC	0.677000													12	18					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62985084G>A	uc002alb.4	+	9	1159	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	387	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E387K(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388000													23	59					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245892	89245892	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89245892G>A	uc002fmt.3	+	1	188	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CDH15_uc010cij.1_Silent_p.A37A	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	37					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.R36L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGCCGGGCGCCTGCCCTGA	0.657000													35	87					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891121	2891121	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2891121C>T	uc002kln.3	+	3	1155	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	332					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCATGGAGGGCATGGACAGAA	0.547000													28	103					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388750	128388750	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:128388750G>A	uc003qbk.3	-	11	2438	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	PTPRK_uc010kfc.3_Missense_Mutation_p.R691W|PTPRK_uc003qbj.3_Missense_Mutation_p.R691W|PTPRK_uc011ebu.2_Missense_Mutation_p.R691W|PTPRK_uc003qbl.1_Missense_Mutation_p.R561W|PTPRK_uc011ebv.1_Missense_Mutation_p.R691W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	691					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGTAGGTCCGATTGTCACCC	0.542000													30	88					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	9066240	9066240	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:9066240G>A	uc002glw.4	+	2	1236	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	377	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAACACCGCCGGCCGCCACTG	0.647000													5	18					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041923	5041923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:5041923C>T	uc002cye.2	+	5	739	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	187						integral to membrane|intracellular	transporter activity	p.R187H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCCCCAGTCCGTGAGGAGGA	0.667000													9	8					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321398	321398	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:321398G>A	uc002cgj.1	-	11	752	c.749_splice	c.e11+1	p.A250_splice	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Splice_Site_p.A229_splice|RGS11_uc010bqs.1_Splice_Site_p.A239_splice|RGS11_uc002cgk.1_Splice_Site_p.A66_splice	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	250	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCACTCACGCCTCAAGGCA	0.647000													24	37					0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620155	82620155	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82620155G>A	uc021ssl.1	+	18		c.3635G>A			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GGGTGGCCTGGGGCCTGTGGA	0.622000													4	8					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121476199	121476199	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:121476199T>C	uc001pxx.3	+	34	4996	c.4867T>C	c.(4867-4869)Tat>Cat	p.Y1623H	SORL1_uc010rzp.1_Missense_Mutation_p.Y469H|SORL1_uc010rzq.1_Missense_Mutation_p.Y238H	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1623	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATACCACGTATCAGGTTAA	0.448000													67	182					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503681	10503681	+	Silent	SNP	G	G	A	rs147701905		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503681G>A	uc001min.1	+	3	870	c.525G>A	c.(523-525)gcG>gcA	p.A175A	AMPD3_uc010rbz.1_Silent_p.A7A|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Silent_p.A166A|AMPD3_uc001mio.1_Silent_p.A166A|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.A173A|AMPD3_uc009yfy.2_Silent_p.A166A	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	166					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A175A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAGTATGCGCGGCTCGCCT	0.612000													52	130					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47882577	47882577	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:47882577G>A	uc003cru.3	+	6	1003	c.577G>A	c.(577-579)Gag>Aag	p.E193K	DHX30_uc003crs.2_Missense_Mutation_p.E154K|DHX30_uc003crt.3_Missense_Mutation_p.E154K|DHX30_uc010hjr.1_Missense_Mutation_p.E221K	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	193	Poly-Glu.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGGAGGACGAGGAGGAAGA	0.572000													11	40					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89912189	89912189	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89912189C>T	uc003hse.1	-	3	748	c.540G>A	c.(538-540)aaG>aaA	p.K180K	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	180	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCACATGATGCTTGGCTACTT	0.413000													4	76					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4163076	4163076	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:4163076G>A	uc002wkp.2	+	4	1151	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Missense_Mutation_p.C317Y|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.C317Y	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	317					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGTGGAGTGCGAGGACTGT	0.642000													16	50					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24473884	24473884	+	Silent	SNP	G	G	A	rs149870664		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:24473884G>A	uc003ned.1	-	5	564	c.453C>T	c.(451-453)caC>caT	p.H151H	GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Silent_p.H151H|GPLD1_uc003nee.3_Silent_p.H151H	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATAGGAGCCGTGAAAATCAA	0.388000													6	27					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42273243	42273243	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:42273243A>G	uc001uyj.3	-	28	3598	c.3528T>C	c.(3526-3528)agT>agC	p.S1176S		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1176						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTTTGAGAGGACTTCCCAGCG	0.463000													5	124					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400737	151400737	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151400737C>T	uc001eyd.2	-	5	1036	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	POGZ_uc021oyq.1_Missense_Mutation_p.V188I|POGZ_uc010pdb.2_Missense_Mutation_p.V241I|POGZ_uc010pdc.2_Missense_Mutation_p.V188I|POGZ_uc009wmv.2_Missense_Mutation_p.V146I|POGZ_uc001eyf.2_Missense_Mutation_p.V188I|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.V241I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	241					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GACTGTGGGACGGTGCTTCGA	0.602000													12	169					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29708606	29708606	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29708606C>T	uc002dto.3	+	3	846	c.768C>T	c.(766-768)ctC>ctT	p.L256L	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	256					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGGACAACCTCCCCCAGTTCT	0.637000													11	38					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234284	37234284	+	Silent	SNP	G	G	A	rs138219673		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37234284G>A	uc002hrg.2	-	10	1280	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.C64C|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	356					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTCCTCGCACATCCTGC	0.542000													19	43					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340694	151340694	+	Silent	SNP	G	G	A	rs141632271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151340694G>A	uc010pcy.2	-	4	718	c.588C>T	c.(586-588)gaC>gaT	p.D196D	SELENBP1_uc001exx.3_Silent_p.D154D|SELENBP1_uc010pcz.2_Silent_p.D92D|SELENBP1_uc001eya.3_Silent_p.D90D	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	154					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCTTGACGTCTCCCAGGG	0.542000													74	188					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119158888	119158888	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119158888A>G	uc004bjn.3	+	21	5258	c.4877A>G	c.(4876-4878)cAt>cGt	p.H1626R	PAPPA_uc011lxq.2_Missense_Mutation_p.H1001R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1626					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						GGATACAGCCATGGCTAAGGA	0.537000													4	116					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472316	50472316	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:50472316G>A	uc001rvv.3	+	5	1179	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ASIC1_uc001rvw.3_Missense_Mutation_p.R317H|ASIC1_uc009zln.3_Missense_Mutation_p.R108H|ASIC1_uc009zlo.3_Missense_Mutation_p.R317H|ASIC1_uc021qxr.1_Missense_Mutation_p.R351H	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	317					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGTGAGACGCGCTACCTGGTG	0.612000													37	150					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:6941923C>T	uc002geh.3	+	2	1104	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	266						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTCGTGGGGCGTGTGGTCTC	0.602000													6	107					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137176	33137176	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33137176C>T	uc003ocx.1	-	50	4010	c.3782G>A	c.(3781-3783)gGc>gAc	p.G1261D	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1175D|COL11A2_uc003ocz.1_Missense_Mutation_p.G1154D	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1261	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTTGGGGCCATCATCGCC	0.627000													9	44					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109177768	109177768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109177768G>A	uc010ouy.2	+	10	1159	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	360										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGATCAAACGCTAGAAGTCA	0.373000													26	63					0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95903246	95903246	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95903246A>G	uc001yei.4	-	13	2464	c.2449T>C	c.(2449-2451)Ttg>Ctg	p.L817L	C14orf49_uc010avi.3_Silent_p.L812L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	817					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCCACCTGCAACCACTGCCCA	0.502000													5	112					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662502	5662502	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:5662502G>A	uc003sox.2	-	16	3020	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	RNF216_uc010ksz.2_Missense_Mutation_p.H486Y|RNF216_uc010kta.2_Missense_Mutation_p.H486Y|RNF216_uc003soy.2_Missense_Mutation_p.H864Y|RNF216_uc011jwj.2_Missense_Mutation_p.H486Y	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	864					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGAAGCGATGCCGCGGCTGG	0.622000													10	243					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638166	176638166	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176638166G>A	uc003mfr.4	+	4	2904	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	NSD1_uc003mft.4_Silent_p.T653T|NSD1_uc003mfs.1_Silent_p.T819T|NSD1_uc011dfx.2_Silent_p.T570T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	922					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGTAAGACGAAGGAGCAGC	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	59					0	0	1	0	0
TMEM86B	255043	broad.mit.edu	37	19	55738740	55738740	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55738740G>A	uc002qju.3	-	2	1013	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	TMEM86B_uc002qjt.3_Missense_Mutation_p.R163C	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	Homo sapiens transmembrane protein 86B (TMEM86B), mRNA.	164					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCAGGCCGCGCCACAGCATG	0.706000													7	16					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91444844	91444844	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91444844C>T	uc001xys.2	-	2	415	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RPS6KA5_uc010twi.1_5'UTR|RPS6KA5_uc001xyt.3_Missense_Mutation_p.R67H|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	67	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTTATTTTACGAACTAGAAA	0.323000													15	29					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409842	13409842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13409842G>A	uc002mwy.3	-	18	2841	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	CACNA1A_uc010dzc.2_Missense_Mutation_p.R395W|CACNA1A_uc010xnd.2_Missense_Mutation_p.R872W|CACNA1A_uc021ups.1_Missense_Mutation_p.R869W|CACNA1A_uc010xne.2_Missense_Mutation_p.R872W|CACNA1A_uc010dze.2_Missense_Mutation_p.R869W|CACNA1A_uc021upt.1_Missense_Mutation_p.R870W	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	870					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGGGGTCCCGGGCCCGATCG	0.751000													3	25					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79396694	79396694	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:79396694C>T	uc003hlb.2	+	53	8225	c.7785C>T	c.(7783-7785)acC>acT	p.T2595T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2594	Calx-beta 1.				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						AGCAAGGCACCGCCAGCTCCA	0.597000													23	67					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921856	46921856	+	Silent	SNP	G	G	A	rs150401820		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:46921856G>A	uc001ndn.4	-	2	516	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRP4_uc009ylh.2_Silent_p.D42D	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	91	LDL-receptor class A 2.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTGTCCCCGTCACACACCC	0.522000													23	73					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146235	70146235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70146235C>T	uc003hej.3	+	0	19	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B28_uc010ihr.3_Missense_Mutation_p.T6I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	6					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTGAAGTGGACTTCAGTTCTT	0.403000													53	155					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81517754	81517754	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:81517754G>T	uc021ssh.1	+	0	115	c.14G>T	c.(13-15)aGc>aTc	p.S5I	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.S5I|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S47I|IL16_uc021ssg.1_Missense_Mutation_p.S5I|IL16_uc002bgg.3_Missense_Mutation_p.S5I	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	5					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCGCACAGCCGCGCTGGA	0.542000													7	33					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:99662413G>A	uc010nmz.3	-	0	2859	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_uc004efw.4_Nonsense_Mutation_p.R395*|PCDH19_uc004efx.4_Nonsense_Mutation_p.R395*	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607000													39	48					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318870	112318870	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:112318870G>A	uc001ebu.1	-	7	2277	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	KCND3_uc001ebv.1_Silent_p.D580D	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	599						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTCTCAGTCCGTCGTCTGCTT	0.557000													14	36					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7756414	7756414	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7756414C>T	uc002gix.3	+	10	3450	c.2613C>T	c.(2611-2613)gaC>gaT	p.D871D	KDM6B_uc002giw.1_Silent_p.D1569D|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1569	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGTCAAGGACGAGCCAGCCT	0.627000													7	37					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920810	155920810	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155920810C>T	uc001fmu.2	-	23	2900	c.2645G>A	c.(2644-2646)cGg>cAg	p.R882Q	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R76Q|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R810Q|ARHGEF2_uc001fms.2_Missense_Mutation_p.R837Q|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R838Q	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	838					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCGGAGCCGGGCCTCCAG	0.697000													15	25					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673175	1673175	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1673175G>A	uc002ftl.3	+	2	271	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	38					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCACAGGGGCGCTGGTGGAGG	0.602000													42	118					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974420	44974420	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:44974420C>T	uc001wvn.3	-	0	2080	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	591	Ala-rich.					cilium				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)		TGAATTGCAGCAGAGGCCTCT	0.547000													17	38					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683138	31683138	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:31683138G>A	uc011kae.2	+	10	2244	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S	CCDC129_uc011kad.1_Silent_p.S728S|CCDC129_uc003tcj.1_Silent_p.S718S|CCDC129_uc003tci.1_Silent_p.S569S|CCDC129_uc003tck.1_Silent_p.S626S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	718										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGGTGTCGGCTGCTCAGA	0.527000													25	64					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011599	176011599	+	Missense_Mutation	SNP	G	G	A	rs114267729	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176011599G>A	uc021yie.1	+	18	2591	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	CDHR2_uc003mem.2_Missense_Mutation_p.V773I|CDHR2_uc003men.1_Missense_Mutation_p.V773I	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	773	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACACAGCCCGTCTTCAACTT	0.597000													44	95					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:101456141G>A	uc001dts.2	-	7	828	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DPH5_uc001dtr.2_Silent_p.A226A|DPH5_uc001dtt.2_Silent_p.A227A|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_Silent_p.A106A|DPH5_uc001dtq.2_Non-coding_Transcript|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448000													23	51					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95078067	95078067	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95078067A>T	uc022bjx.1	-	6	1177	c.840T>A	c.(838-840)aaT>aaA	p.N280K	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.N212K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	280					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TAAAAGGTAGATTTTTAAGTT	0.373000													10	31					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170669733	170669733	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170669733C>T	uc003mba.3	+	23	2827	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	RANBP17_uc003mbb.3_Silent_p.L220L|RANBP17_uc003mbd.3_Silent_p.L258L|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	895					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAATGTCTCACTCAGGACC	0.418000			T	TRD@	ALL								36	95					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45893726	45893726	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:45893726A>G	uc010rgn.2	+	10	1811	c.1789A>G	c.(1789-1791)Aaa>Gaa	p.K597E	CRY2_uc009ykw.3_Missense_Mutation_p.K515E|CRY2_uc010rgo.2_Missense_Mutation_p.K319E	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	576					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGAACTCAGCAAACGGGCCCG	0.597000													25	64					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	rs143532789		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130784835C>T	uc001qgk.4	-	0	1548	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E334K|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	334					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502000													31	76					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117106079	117106079	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117106079G>A	uc004biq.3	-	17	3801	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	AKNA_uc004bin.3_Silent_p.H469H|AKNA_uc004bio.3_Silent_p.H682H|AKNA_uc004bip.3_Silent_p.H1141H|AKNA_uc004bir.3_Silent_p.H1222H|AKNA_uc004bis.3_Silent_p.H1222H|AKNA_uc010mve.2_Silent_p.H1103H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGTATTCGTGGCCTGGGG	0.517000													19	52					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60615458	60615458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:60615458C>T	uc001nqa.2	+	1	989	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	274					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GATGAAGGAACGACAGGAGAG	0.632000													50	114					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080681	126080681	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:126080681C>T	uc003qad.3	+	4	938	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_uc011ebr.2_Silent_p.C203C	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	249					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672000													126	341					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698508	43698508	+	Missense_Mutation	SNP	G	G	C	rs145716593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698508G>C	uc002ovy.3	-	4	1329	c.1227C>G	c.(1225-1227)atC>atG	p.I409M	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.I316M|PSG4_uc002owb.3_Missense_Mutation_p.I316M	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	409	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTGACTGTGATGGATTTGG	0.453000													86	214					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946626	102946626	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:102946626T>C	uc003hvy.4	+	8	1828	c.1554T>C	c.(1552-1554)gcT>gcC	p.A518A	BANK1_uc003hvx.4_Silent_p.A503A|BANK1_uc010ill.3_Silent_p.A385A|BANK1_uc003hvz.4_Silent_p.A488A	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	518					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTGTAGCTAATGCCTTCC	0.438000													6	26					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201337651	201337651	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201337651A>G	uc010zhc.2	+	11	1370	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	SPATS2L_uc002uvn.4_Missense_Mutation_p.N386S|SPATS2L_uc010fst.3_Missense_Mutation_p.N386S|SPATS2L_uc002uvo.4_Missense_Mutation_p.N326S|SPATS2L_uc002uvp.4_Missense_Mutation_p.N386S|SPATS2L_uc002uvq.4_Missense_Mutation_p.N317S|SPATS2L_uc002uvr.4_Missense_Mutation_p.N386S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	386						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAACAGAGTAACTTTTCCCGA	0.532000													18	72					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544513	39544513	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:39544513G>A	uc001zkg.2	+	1	545	c.177G>A	c.(175-177)acG>acA	p.T59T	C15orf54_uc021sjb.1_Silent_p.T59T	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	59			T -> M (in dbSNP:rs11853050).							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438000													122	311					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807691	128807691	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:128807691G>A	uc003vop.2	+	7	937	c.828G>A	c.(826-828)caG>caA	p.Q276Q	TSPAN33_uc003voq.2_Silent_p.Q108Q	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	276						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACAACCAGCAGCACCGGGCTG	0.517000													11	22					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117872G>A	uc010ouo.2	+	17	2610	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_uc001duq.3_Missense_Mutation_p.M302I|AMY2B_uc001dur.3_Missense_Mutation_p.M302I|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418000													8	405					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444464	150444464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150444464A>T	uc009wlr.3	+	10	3241	c.3040A>T	c.(3040-3042)Aaa>Taa	p.K1014*	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Nonsense_Mutation_p.K988*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1014							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATATGCTTAAAAACGCCTC	0.542000													15	361					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579045	35579045	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35579045C>T	uc001bym.3	+	9	1760	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ZMYM1_uc001byn.3_Silent_p.D538D|ZMYM1_uc010ohu.2_Silent_p.D519D|ZMYM1_uc001byo.3_Silent_p.D178D|ZMYM1_uc009vut.3_Silent_p.D463D	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	538						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTCAGTGACGATTTATCTA	0.313000													4	173					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10597450	10597450	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10597450C>T	uc002moq.1	-	5	1909	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	KEAP1_uc002mop.1_Missense_Mutation_p.D244N|KEAP1_uc002mor.1_Missense_Mutation_p.D585N	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	585					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)			GTATCTGGGTCGTAACACTCC	0.592000													37	99					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006865	67006865	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67006865G>T	uc002eqt.3	+	12	1708	c.1629G>T	c.(1627-1629)tgG>tgT	p.W543C	CES3_uc010cdz.3_Missense_Mutation_p.W540C|CES3_uc010viw.2_Missense_Mutation_p.W182C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	543						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.W543*(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGCCTGGATGCAGTTCT	0.577000													27	43					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40720904G>A	uc002ona.3	+	9	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	857					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity	p.R857H(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677000													17	43					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672512	63672512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63672512G>A	uc001nxw.3	+	15	2510	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	MARK2_uc001nxv.4_Missense_Mutation_p.R589H|MARK2_uc001nxx.3_Missense_Mutation_p.R590H|MARK2_uc001nxy.3_Missense_Mutation_p.R589H|MARK2_uc001nxz.4_Missense_Mutation_p.R610H|MARK2_uc009yoy.3_Missense_Mutation_p.R564H	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	644					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTTTGTACGCAGGTAAGCA	0.632000													60	132					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976306	38976306	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38976306G>A	uc002oit.3	+	33	5141	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	RYR1_uc002oiu.3_Missense_Mutation_p.A1671T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1671	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1670H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCTACCGCGCTGTGTGCGC	0.667000													30	74					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149853788	149853788	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:149853788C>T	uc010zbu.2	+	17	2429	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Silent_p.H230H|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	678					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408000													11	31					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59415348	59415348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:59415348C>T	uc001noe.4	-	14	1915	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	PATL1_uc009yms.1_Missense_Mutation_p.R561Q	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	591	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTTCCCTTTTCGGATACACAT	0.443000													12	47					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285095	27285095	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27285095C>T	uc002hdp.2	-	10	2366	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.S724S|SEZ6_uc002hdq.1_Silent_p.S599S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	724	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAGGCTGCGATGGGCTCT	0.612000													18	80					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17270255	17270255	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17270255C>T	uc010eak.3	+	7	1532	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	MYO9B_uc002nfi.3_Silent_p.T460T|MYO9B_uc002nfj.1_Silent_p.T460T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	460	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACGGTGACCGTCAACGACA	0.517000													4	20					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831682	37831682	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:37831682G>A	uc011byb.1	+	1	251	c.178G>A	c.(178-180)Gct>Act	p.A60T	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_5'UTR	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	60					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTGGGACAGCTGGCCTCCG	0.423000													16	38					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626820	108626820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:108626820G>A	uc002tdv.3	+	8	1522	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	SLC5A7_uc010ywm.2_Missense_Mutation_p.V169I|SLC5A7_uc010fjj.3_Missense_Mutation_p.V416I|SLC5A7_uc010ywn.2_Missense_Mutation_p.V303I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	416					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			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)	TGTTTACATCGTTATCTTCCC	0.483000													22	67					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39796522	39796522	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:39796522C>T	uc002xjp.1	+	19	2453	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PLCG1_uc002xjo.1_Missense_Mutation_p.R778C|PLCG1_uc010zwe.1_Missense_Mutation_p.R404C|PLCG1_uc010ggf.3_Intron	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	778					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTATGAGGGACGCAACCCTGG	0.552000													7	25					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19425884	19425884	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:19425884C>T	uc010tcj.1	-	0		c.20226G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TACTTATTTCCGGCATTCCAT	0.368000													17	51					0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56467959C>T	uc010rjn.2	+	0	96	c.96C>T	c.(94-96)ggC>ggT	p.G32G	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTTCCTGGGCGTGTACTCTC	0.502000													24	113					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086422	2086422	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2086422G>A	uc002coi.3	+	2	650	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	TCRBV20S1_uc021tak.1_Intron|SLC9A3R2_uc002coj.3_Missense_Mutation_p.R171Q|SLC9A3R2_uc021tan.1_Missense_Mutation_p.R60Q|SLC9A3R2_uc002cok.3_Missense_Mutation_p.R60Q|SLC9A3R2_uc021tao.1_Missense_Mutation_p.R58Q	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 (SLC9A3R2), transcript variant 1, mRNA.	171	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GACAAGTCCCGGCCCGGCCAG	0.687000													5	11					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758849	55758849	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:55758849C>T	uc010gip.1	-	3	1416	c.887G>A	c.(886-888)aGc>aAc	p.S296N	BMP7_uc002xyc.3_Missense_Mutation_p.S296N	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	296					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCGCTGTTTGCTCCCCGTGGA	0.632000													25	94					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85589838	85589838	+	Silent	SNP	C	C	T	rs138281012	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85589838C>T	uc001dkt.3	+	18	2207	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	WDR63_uc009wcl.3_Silent_p.D633D	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	672										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCATTCACGACGGAACTGTCC	0.443000													30	74					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230974	13230974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13230974C>T	uc001ima.3	+	9	1440	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	MCM10_uc001imb.3_Nonsense_Mutation_p.R437*|MCM10_uc001imc.3_Nonsense_Mutation_p.R437*	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	438					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding	p.R438Q(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTGGAGGACGAATTCCAAA	0.537000													5	175					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492739	108492739	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:108492739G>A	uc003psg.3	+	1	858	c.103G>A	c.(103-105)Ggc>Agc	p.G35S		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	35					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGCCTGCGACGGCTGCTCAGG	0.567000													65	172					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147073	52147073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:52147073G>A	uc002pxf.4	-	4	1091	c.971C>T	c.(970-972)cCg>cTg	p.P324L		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	324	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGCCCAGCGGATGCTGAAC	0.577000													29	64					0	0	1	0	0
DUSP18	150290	broad.mit.edu	37	22	31059579	31059579	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31059579G>A	uc003aiu.3	-	1	913	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Missense_Mutation_p.R138W|DUSP18_uc021wnv.1_Missense_Mutation_p.R138W	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	138	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATGATGGGCCGGCATGACTTG	0.582000													23	64					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46323417	46323417	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46323417C>T	uc002zgd.2	-	3	406	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	ITGB2_uc002zgf.3_Missense_Mutation_p.R121Q|ITGB2_uc011afl.1_Missense_Mutation_p.R43Q|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.R121Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	121					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCTTGGCCCGCCGGAAGGT	0.592000													21	63					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012962	26012962	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26012962G>A	uc001bkm.2	+	1	902	c.572G>A	c.(571-573)cGt>cAt	p.R191H	MAN1C1_uc009vry.1_Missense_Mutation_p.R11H	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	191					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTATAAGCGTTATGCAATG	0.493000													44	127					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15372633	15372633	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:15372633C>A	uc002rcc.1	-	46	6175	c.6149G>T	c.(6148-6150)gGt>gTt	p.G2050V	NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Missense_Mutation_p.G1122V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2050										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCACTGCCACCACTGTGAAA	0.483000													9	30					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105902	151105902	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151105902G>A	uc001ewv.3	-	19	2283	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G	SEMA6C_uc001ewu.3_Silent_p.G617G|SEMA6C_uc001eww.3_Silent_p.G609G	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	617						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGAGGCGCCCAGGGCAA	0.731000													5	7					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876294	39876294	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39876294G>A	uc009vvt.1	+	0	1119	c.357G>A	c.(355-357)cgG>cgA	p.R119R	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	0										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478000													4	171					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677671	80677671	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:80677671C>T	uc021rxa.1	-	0	198	c.145G>A	c.(145-147)Gga>Aga	p.G49R	LOC100628307_uc001xuw.1_5'Flank|DIO2_uc001xut.3_Missense_Mutation_p.G49R|DIO2_uc010asx.3_Missense_Mutation_p.G49R|DIO2_uc021rxb.1_Missense_Mutation_p.G49R|DIO2_uc010asy.3_Missense_Mutation_p.G49R	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	49					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCCACTCTCCGCGAGTGGAC	0.577000													7	25					0	0	1	0	0
SAMD10	140700	broad.mit.edu	37	20	62607080	62607080	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:62607080C>T	uc002yhm.2	-	3	726	c.551G>A	c.(550-552)cGt>cAt	p.R184H	SAMD10_uc002yhn.2_Non-coding_Transcript	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	Homo sapiens sterile alpha motif domain containing 10 (SAMD10), mRNA.	184	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCTCCTCACGCACCTGCAG	0.682000													50	99					0	0	1	0	0
JMJD8	339123	broad.mit.edu	37	16	733031	733031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:733031C>T	uc002ciw.1	-	7	756	c.699G>A	c.(697-699)acG>acA	p.T233T	JMJD8_uc002ciy.1_Silent_p.T203T	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	Homo sapiens jumonji domain containing 8 (JMJD8), mRNA.	282	JmjC.									breast(1)	1						GCCAGGCCAGCGTGGTCTTGT	0.642000													39	56					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31227350	31227350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:31227350C>T	uc001utc.2	+	7	1736	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V	USPL1_uc001utd.2_Missense_Mutation_p.A106V|USPL1_uc001ute.1_Missense_Mutation_p.A106V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	435					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348000													26	86					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:134346320C>T	uc004can.4	+	12	2112	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PRRC2B_uc010mzj.1_Missense_Mutation_p.T269M|PRRC2B_uc004cao.4_Missense_Mutation_p.T44M	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	686							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACGTATCACGCCCACTCGG	0.607000													5	43					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37822127C>T	uc002hsh.3	+	1	283	c.269C>T	c.(268-270)cCg>cTg	p.P90L	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	Homo sapiens titin-cap (telethonin) (TCAP), mRNA.	90			P -> L (in CMD1N).		adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672000													7	23					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27873946	27873946	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27873946C>T	uc021ojw.1	-	0	4681	c.4681G>A	c.(4681-4683)Gac>Aac	p.D1561N	AHDC1_uc009vsy.3_Missense_Mutation_p.D1561N|AHDC1_uc009vsz.1_Missense_Mutation_p.D1561N	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1561							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAGGCGGTGTCCTGCAGGGGC	0.692000													7	125					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38460555	38460555	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:38460555G>A	uc002yvz.3	+	3	352	c.247G>A	c.(247-249)Gat>Aat	p.D83N	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.3_Missense_Mutation_p.D83N|TTC3_uc002ywb.3_Missense_Mutation_p.D83N|TTC3_uc010gnf.3_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.D83N	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	83					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C82C(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTATTGCGATGCCATTAA	0.348000													26	49					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24459593	24459593	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24459593G>A	uc002zzi.1	+	13	1995	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	CABIN1_uc021wnc.1_Missense_Mutation_p.R573H|CABIN1_uc002zzj.1_Missense_Mutation_p.R573H|CABIN1_uc002zzl.2_Missense_Mutation_p.R623H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	623					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGCTCGCTTCCTGGCG	0.582000													43	99					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610374	68610374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610374G>T	uc003hdn.3	-	1	2405	c.654C>A	c.(652-654)tgC>tgA	p.C218*	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.P176T	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGATGAAGAGGCAGCTGAAGG	0.433000													33	77					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380294	380294	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:380294C>T	uc001lpb.3	+	17	2727	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	906						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCCAGGACGCCAGCAGCA	0.701000													19	54					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698198	202698198	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:202698198C>T	uc009xag.3	-	27	4825	c.4709G>A	c.(4708-4710)cGc>cAc	p.R1570H	KDM5B_uc001gyf.3_Missense_Mutation_p.R1534H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1534					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACAGTACAGCGCACACAGAT	0.473000													28	68					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350603	139350603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:139350603G>A	uc004chx.3	-	18	5875	c.5566C>T	c.(5566-5568)Cga>Tga	p.R1856*	SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Nonsense_Mutation_p.R41*|SEC16A_uc004chv.4_Nonsense_Mutation_p.R1246*|SEC16A_uc004chw.3_Nonsense_Mutation_p.R1856*|SEC16A_uc010nbn.3_Nonsense_Mutation_p.R1856*	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1678	Pro-rich.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGAAGAGTCGTAACTGGGAA	0.567000													4	77					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020465	99020465	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:99020465T>C	uc001tfx.3	-	2	487	c.377A>G	c.(376-378)aAc>aGc	p.N126S	IKBIP_uc001tfv.3_Intron|IKBIP_uc001tfw.3_Intron	NM_153687	NP_710154	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 1, mRNA.	128					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTGGAGGTTGGATACTTC	0.393000													22	52					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140716	55140716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55140716C>T	uc003han.4	+	10	1908	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T420M|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	526					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTGAACTCACGGTGGCTGCT	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	84					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78831654	78831654	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78831654G>A	uc002jyt.1	+	12	2268	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RPTOR_uc010wuf.1_Missense_Mutation_p.R303Q|RPTOR_uc010wug.1_Missense_Mutation_p.R488Q	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	488					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGAGAGCTGCGGCCACTTCTC	0.652000													8	53					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610375	68610375	+	Missense_Mutation	SNP	C	C	T	rs151105045	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610375C>T	uc003hdn.3	-	1	2404	c.653G>A	c.(652-654)tGc>tAc	p.C218Y	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Silent_p.L175L	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGAGGCAGCTGAAGGT	0.438000													35	77					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:124761327G>A	uc001qbg.3	-	11	1956	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ROBO4_uc010sas.2_Missense_Mutation_p.R461C|ROBO4_uc001qbh.2_Missense_Mutation_p.R496C|ROBO4_uc001qbi.3_Missense_Mutation_p.R164C|ROBO4_uc010sat.1_Missense_Mutation_p.R164C	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662000													18	64					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281464	42281464	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:42281464C>T	uc010dni.3	+	1	449	c.153C>T	c.(151-153)ggC>ggT	p.G51G	SETBP1_uc002lay.3_Silent_p.G51G	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	51						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGGTGGGCGGAGAGCGCA	0.622000									Schinzel-Giedion syndrome				6	50					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150790487	150790487	+	Missense_Mutation	SNP	G	G	A	rs143491065		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150790487G>A	uc001evr.2	-	14	1615	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ARNT_uc010pck.2_5'Flank|ARNT_uc001evs.2_Missense_Mutation_p.R457W|ARNT_uc009wmd.2_Missense_Mutation_p.R457W|ARNT_uc009wmb.2_Missense_Mutation_p.R458W|ARNT_uc009wmc.2_Missense_Mutation_p.R472W|ARNT_uc009wme.2_3'UTR	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	472					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTAGGCCGTGGTTCTTGG	0.517000			T	ETV6	AML								7	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501179	179501179	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179501179C>T	uc021vsy.1	-	173	33796	c.33571G>A	c.(33571-33573)Gtt>Att	p.V11191I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V4886I|TTN_uc021vta.1_Missense_Mutation_p.V4819I|TTN_uc021vtb.1_Missense_Mutation_p.V4694I|TTN_uc010fre.1_Missense_Mutation_p.V1052I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12118	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACGTAAAACACAGGTGTAT	0.378000													6	51					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:52860732G>A	uc003gzi.3	-	3	2463	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	819						integral to membrane		p.P819P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463000													15	40					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909722	909722	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:909722C>T	uc001ace.3	+	13	1871	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PLEKHN1_uc001acd.3_Silent_p.P560P|PLEKHN1_uc001acf.3_Silent_p.P525P	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	612				P -> S (in Ref. 4; AAI01388).						central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AAGGTTCGCCCGAACCCTGGC	0.627000													20	109					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32902905	32902905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32902905G>A	uc001rli.3	-	3	1319	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	414					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity	p.R414H(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTTGCTTTGCGGCAAGTATCT	0.388000													32	85					0	0	1	0	0
AK024141	0	broad.mit.edu	37	14	73079274	73079274	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:73079274C>T	uc010arh.1	-	0		c.530G>A								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		GCATCTATCACGGCAGAGGGA	0.517000													54	116					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156957868	156957868	+	Silent	SNP	C	C	T	rs141005435	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156957868C>T	uc003lwz.3	-	4	433	c.354G>A	c.(352-354)acG>acA	p.T118T	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Silent_p.T49T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	118					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.G118V(1)|p.H117H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCTCACCGTGCCGTGGT	0.537000													12	55					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270998	45270998	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45270998T>C	uc001cmn.3	+	13	1796	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	566						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCTGCAGTGGGTCAAGAC	0.597000													21	69					0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39909961	39909961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39909961G>A	uc003axw.3	+	5	1522	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	SMCR7L_uc010gxz.1_Missense_Mutation_p.R164H|SMCR7L_uc003axx.3_Missense_Mutation_p.R342H|SMCR7L_uc003axy.3_Missense_Mutation_p.R164H	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	342						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CTGAGCCTGCGTCCCGCGGAG	0.622000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	79					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89744489	89744489	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:89744489G>A	uc001tay.3	-	1	1194	c.714C>T	c.(712-714)aaC>aaT	p.N238N	DUSP6_uc001taz.3_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	238	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGGGTGACGTTCAAGATGT	0.493000													8	216					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:15928442G>A	uc003jfn.1	+	2	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627000													11	34					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66990669	66990669	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:66990669G>A	uc001stk.3	-	1	335	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.3_Missense_Mutation_p.P32S	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	32					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCAGGCGGCTTTGTCTGG	0.448000													4	77					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957583	96957583	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:96957583C>T	uc002svu.3	-	16	2348	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	739	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R739W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACATGTCCCGGATGGCCCT	0.557000													12	43					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755531	38755531	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:38755531G>T	uc003ciq.3	-	20	3722	c.3722C>A	c.(3721-3723)tCt>tAt	p.S1241Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1241					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCACTTCAGAATATTCCAG	0.512000													6	111					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549167	44549167	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:44549167T>G	uc021ujl.1	-	0	1368	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	378	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTTTCTCTGTGCGGTACGGC	0.572000													28	339					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3532474	3532474	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3532474G>A	uc010dtk.2	+	9	1102	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	FZR1_uc002lxt.2_Silent_p.A356A|FZR1_uc002lxv.2_Silent_p.A267A	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	356					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTGGCGGCCGTGAAGG	0.687000													13	27					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	876523	876523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:876523G>A	uc003gbm.4	-	13	1688	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	GAK_uc003gbn.4_Missense_Mutation_p.R418W|GAK_uc010ibk.1_Missense_Mutation_p.R391W|GAK_uc003gbl.4_Missense_Mutation_p.R361W	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	497	Phosphatase tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGTCCTGCCGCAGCCAGGCG	0.612000													8	90					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73750675G>A	uc002jpg.3	+	33	4524	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	ITGB4_uc002jph.3_Missense_Mutation_p.R1376Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R1376Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R1376Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1446					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677000													4	86					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113053404	113053404	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113053404A>G	uc001vsd.2	+	3	315	c.266A>G	c.(265-267)cAa>cGa	p.Q89R		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	89						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GAGAATTATCAAGCTGGTGGT	0.353000													4	28					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:38319961G>A	uc010cwt.1	+	6	1308	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	CASC3_uc010cws.1_Missense_Mutation_p.R338Q|CASC3_uc002hue.3_Missense_Mutation_p.R338Q	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	338					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552000													13	267					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:41313799C>A	uc003jmm.1	-	2	988	c.886G>T	c.(886-888)Gat>Tat	p.D296Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448000													16	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179401235	179401235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179401235C>A	uc021vsy.1	-	305	92760	c.92535G>T	c.(92533-92535)tgG>tgT	p.W30845C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.W24540C|TTN_uc021vta.1_Missense_Mutation_p.W24473C|TTN_uc021vtb.1_Missense_Mutation_p.W24348C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31772	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGGCTTCCAGGCCACAA	0.403000													5	74					0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87838684	87838684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87838684C>T	uc010lej.1	-	5	533	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SRI_uc003ujq.1_Missense_Mutation_p.A161T|SRI_uc011khg.1_Missense_Mutation_p.A121T|SRI_uc003ujr.1_Missense_Mutation_p.A146T|SRI_uc011khh.1_Missense_Mutation_p.A146T	NM_003130	NP_003121	P30626	SORCN_HUMAN	Homo sapiens sorcin (SRI), transcript variant 1, mRNA.	161	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACGCAGCAGGCGATGTAGTCG	0.443000													11	40					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689746	88689746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88689746G>A	uc010voz.2	+	10	2059	c.1859G>A	c.(1858-1860)cGg>cAg	p.R620Q	ZC3H18_uc002fky.3_Missense_Mutation_p.R596Q|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	596	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627000													14	17					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85101007	85101007	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:85101007G>T	uc002fiu.3	+	2	549	c.329_splice	c.e2+1	p.G110_splice	KIAA0513_uc010voj.2_Splice_Site_p.G110_splice|KIAA0513_uc002fit.3_Splice_Site_p.G110_splice	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	110						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCTCTGGAGGGTAAGGGGCCT	0.632000													14	41					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719968	48719968	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48719968C>T	uc003cun.3	-	2	393	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	NCKIPSD_uc003cum.3_Missense_Mutation_p.R100Q|NCKIPSD_uc010hkh.2_Missense_Mutation_p.R100Q	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	100					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTCTTTCCGGTGGTGGAT	0.567000													35	89					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39994903C>T	uc002olx.2	+	4	903	c.845C>T	c.(844-846)cCg>cTg	p.P282L	DLL3_uc010egq.3_Missense_Mutation_p.P282L|DLL3_uc002olw.2_Missense_Mutation_p.P282L	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	282	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647000													8	44					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678733	53678733	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53678733A>G	uc010eqm.1	-	2	207	c.107T>C	c.(106-108)gTc>gCc	p.V36A		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAACATGACGTCCCTGTA	0.458000													4	140					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149485020	149485020	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149485020C>T	uc010lpk.3	+	25	3775	c.3775C>T	c.(3775-3777)Cat>Tat	p.H1259Y		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1259					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCGGCATGGGCACCA	0.637000													4	7					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109522826	109522826	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:109522826C>T	uc010sxi.2	+	11	1341	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	USP30_uc001tnu.4_Missense_Mutation_p.P382S|USP30_uc001tnw.4_Missense_Mutation_p.P130S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	413					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						ATCTTTATTGCCAACGCTGTC	0.522000													16	360					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444255	23444255	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23444255T>C	uc001whz.3	-	4	1671	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	AJUBA_uc001why.3_Missense_Mutation_p.N16S	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	433	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CAGGCACTTGTTGCAAACAAT	0.522000													20	80					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449905	3449905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:3449905G>A	uc003ghc.3	+	12	1690	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	HGFAC_uc010icw.3_Missense_Mutation_p.A570T	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	563	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTGGTCGCCGACCACAA	0.657000													8	8					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363730	42363730	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:42363730G>A	uc001zox.3	-	15	1688	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	531	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTTCAGGGAGAAAATGTTGC	0.567000													20	41					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954527	79954527	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79954527G>A	uc002kcy.3	+	6	835	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ASPSCR1_uc002kcx.3_Silent_p.S246S|ASPSCR1_uc021ufj.1_Silent_p.S169S|ASPSCR1_uc002kda.3_Silent_p.S169S|ASPSCR1_uc002kdb.1_Silent_p.S169S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	246							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCCTTTCTCGGGTGGGGGAC	0.662000			T	TFE3	alveolar soft part sarcoma								16	40					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763494	5763494	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:5763494A>G	uc003zjl.4	+	17	2547	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	KIAA1432_uc003zjh.3_Missense_Mutation_p.T744A|KIAA1432_uc003zji.3_Missense_Mutation_p.T744A|KIAA1432_uc003zjj.1_Missense_Mutation_p.T286A	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	823						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGTGGAGAGAACCTCTCAGAT	0.478000													5	99					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:118969736G>A	uc003ksm.2	+	2	503	c.293G>A	c.(292-294)cGc>cAc	p.R98H	FAM170A_uc003ksl.2_Missense_Mutation_p.R98H|FAM170A_uc003ksn.3_Missense_Mutation_p.R98H|FAM170A_uc003kso.3_Missense_Mutation_p.R51H	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	98						intracellular	zinc ion binding	p.R98H(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483000													23	66					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024105	14024105	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14024105G>A	uc002mxo.2	+	4	802	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	CC2D1A_uc002mxn.2_Missense_Mutation_p.R67Q|CC2D1A_uc002mxp.2_Missense_Mutation_p.R168Q|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	168					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607000													15	55					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510727	5510727	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:5510727C>T	uc010qzg.2	+	0	813	c.791C>T	c.(790-792)aCc>aTc	p.T264I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T264A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTCCTCACCCACCGCTTT	0.507000													36	71					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64496688	64496688	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:64496688A>G	uc001xgl.3	+	43	7020	c.6790A>G	c.(6790-6792)Aca>Gca	p.T2264A	SYNE2_uc001xgm.3_Missense_Mutation_p.T2264A|SYNE2_uc021ruh.1_Missense_Mutation_p.T2264A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2264					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGAATACTACATTGGACAA	0.403000													16	24					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33487111	33487111	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:33487111C>T	uc002nuf.3	-	10	1307	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RHPN2_uc010xro.2_Missense_Mutation_p.R263H|RHPN2_uc002nue.3_Missense_Mutation_p.R144H	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	414	BRO1.			HLRRAMA -> TCADHG (in Ref. 2; AAK58588).	signal transduction	perinuclear region of cytoplasm	protein binding	p.R414C(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CATGGCTCTGCGCAAGTGGGA	0.607000													19	48					0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30554609	30554609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:30554609G>A	uc010xbr.1	-	21	2639	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Nonsense_Mutation_p.Q273*|C18orf34_uc002kxn.2_Nonsense_Mutation_p.Q809*|C18orf34_uc010dmf.1_Nonsense_Mutation_p.Q129*|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q771*|C18orf34_uc002kxp.3_Nonsense_Mutation_p.Q809*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	809										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AAGTGCTCCTGCCACAGTGTG	0.498000													13	36					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11185821	11185821	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:11185821T>C	uc003mzv.2	-	6	2246	c.2079A>G	c.(2077-2079)ctA>ctG	p.L693L	NEDD9_uc010joz.2_Silent_p.L693L|NEDD9_uc003mzw.3_Silent_p.L547L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	693					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGTGGTGGGTAGGCTCTGAG	0.507000													4	77					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340962	220340962	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:220340962T>G	uc010puk.1	-	24	3026	c.2862A>C	c.(2860-2862)gaA>gaC	p.E954D	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.E954D|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.E534D	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	954					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTTTAATACTTCAGGGCTGA	0.388000													58	140					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112493823	112493823	+	Missense_Mutation	SNP	C	C	T	rs146358872	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:112493823C>T	uc003pvu.2	-	11	1850	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LAMA4_uc003pvv.2_Missense_Mutation_p.R507Q|LAMA4_uc003pvt.2_Missense_Mutation_p.R507Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	514	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCATGGTCCCGCTGCCTGGC	0.478000													16	39					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514022	165514022	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:165514022G>T	uc001gde.2	+	0	545	c.489G>T	c.(487-489)caG>caT	p.Q163H	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	163						integral to membrane		p.L162F(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCGGCTTGCAGACCCTGGACA	0.517000													6	185					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157148	33157148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33157148G>A	uc003ocx.1	-	1	409	c.181C>T	c.(181-183)Cga>Tga	p.R61*	COL11A2_uc003ocy.1_Nonsense_Mutation_p.R61*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.R61*|COL11A2_uc003oda.3_Nonsense_Mutation_p.R61*	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	61	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTGCCACTCGGTAGGCCACA	0.642000													5	77					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21330573	21330573	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:21330573C>T	uc002ztj.2	+	9	1095	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	LZTR1_uc002ztk.2_Silent_p.L293L|LZTR1_uc002ztl.2_Silent_p.L299L|LZTR1_uc011ahx.1_Silent_p.L281L	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACAGCAAGCTGCTGCTGGC	0.607000													10	34					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154041	5154041	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:5154041C>T	uc001qni.3	+	0	957	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	243						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TTCGAGTATCCGGAGAGCTCT	0.587000													50	132					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939479	36939479	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:36939479G>A	uc001caw.2	-	4	955	c.371C>T	c.(370-372)gCc>gTc	p.A124V	CSF3R_uc001cav.2_Missense_Mutation_p.A124V|CSF3R_uc001cax.2_Missense_Mutation_p.A124V	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	124	Fibronectin type-III 1.				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)	GTGGGGTATGGCTGGAGGGTC	0.607000													27	62					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79412649	79412649	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79412649C>T	uc002kaf.2	+	8	2919	c.2919C>T	c.(2917-2919)gcC>gcT	p.A973A	BAHCC1_uc002kae.2_Silent_p.A234A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1035	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			TGCGCAGCGCCGAGGAAAAGA	0.692000													3	5					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1106142	1106142	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:1106142C>T	uc002wel.4	+	3	298	c.130_splice	c.e3-1	p.P44_splice	PSMF1_uc010zpo.2_Splice_Site|PSMF1_uc010zpp.2_Splice_Site_p.P44_splice|PSMF1_uc002wen.4_Splice_Site_p.P44_splice	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	44					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCTTCCCAGCCGGGTCCCAAT	0.458000													15	34					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521647	39521647	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39521647C>T	uc002hwl.3	-	3	792	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	249	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.627000													17	57					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:53104142G>A	uc003tpz.3	+	0	794	c.778G>A	c.(778-780)Gcc>Acc	p.A260T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	260										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTCCAGCCCGCCCCATCCGC	0.657000													8	110					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768008	57768008	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:57768008C>T	uc002yan.3	+	0	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	645						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGAAAGCCAGGGAGGTG	0.567000													36	85					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33459802	33459802	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:33459802C>T	uc003jhy.3	+	10	1381	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TARS_uc010iup.1_Silent_p.S303S|TARS_uc011coc.2_Silent_p.S383S|TARS_uc003jhz.3_Silent_p.S258S|TARS_uc011cod.2_Silent_p.S241S	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	362					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTATCAGAGCGAATATAGGA	0.418000													22	46					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241569781G>A	uc010fzi.2	+	5	1377	c.505G>A	c.(505-507)Gcg>Acg	p.A169T	GPR35_uc010fzh.2_Missense_Mutation_p.A169T|GPR35_uc021vze.1_Missense_Mutation_p.A138T|GPR35_uc002vzs.2_Missense_Mutation_p.A138T	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	138						integral to plasma membrane	G-protein coupled receptor activity	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|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;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706000													4	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90368409	90368409	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90368409A>G	uc003kju.3	+	85	18394	c.18298A>G	c.(18298-18300)Aca>Gca	p.T6100A	GPR98_uc003kjt.3_Missense_Mutation_p.T3806A|GPR98_uc003kjw.3_Missense_Mutation_p.T1761A|GPR98_uc003kjx.3_Missense_Mutation_p.T128A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGAAGGACAAATGCTGC	0.428000													42	142					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61914294	61914294	+	Silent	SNP	G	G	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:61914294G>C	uc001nsw.1	+	14	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_uc009ynw.1_Silent_p.R712R|INCENP_uc001nsx.1_Silent_p.R704R	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	708					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756000													3	0					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916052	35916052	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35916052C>T	uc001byx.3	-	13	2379	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	KIAA0319L_uc001byw.3_Silent_p.T149T|KIAA0319L_uc010ohv.1_Silent_p.T349T	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	707	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTGCTCGTGGGTAGGG	0.463000													34	84					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627665	64627665	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64627665C>T	uc010rnq.1	-	3	735	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	EHD1_uc001obu.1_Missense_Mutation_p.V216M|EHD1_uc001obv.1_Missense_Mutation_p.V216M	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	216					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCACCACGCGGATCTTG	0.582000													14	58					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723743	126723743	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:126723743C>T	uc003ejg.3	+	4	1635	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	545					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGCGGCGGGACGCCTGTGAGC	0.692000													12	60					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767150	22767150	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:22767150C>T	uc003svj.4	+	1	223	c.107C>T	c.(106-108)tCc>tTc	p.S36F	LOC541472_uc010kun.2_Intron|IL6_uc011jyo.1_Missense_Mutation_p.S36F|IL6_uc011jyp.1_Intron|IL6_uc011jyq.1_Missense_Mutation_p.S90F	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	36					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GGAGAAGATTCCAAAGATGTA	0.587000													32	77					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27688651	27688651	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27688651G>A	uc002rku.3	-	16	1842	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	597					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552000													197	418					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113534571	113534571	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113534571G>A	uc001tuk.1	+	8	2026	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	564					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTCACTATCGGCACGTCCAA	0.632000													9	24					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108391473	108391473	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:108391473C>T	uc003dxd.3	+	22	2981	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	DZIP3_uc003dxf.1_Silent_p.N853N|DZIP3_uc011bhm.2_Silent_p.N304N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	853					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L852M(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAACTGAACGCAGAAACTA	0.393000													31	54					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141745435	141745435	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141745435G>A	uc003yvu.3	-	21	2255	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	PTK2_uc003yvo.3_Missense_Mutation_p.P277S|PTK2_uc011ljq.2_Missense_Mutation_p.P344S|PTK2_uc003yvp.3_Missense_Mutation_p.P317S|PTK2_uc003yvq.3_Missense_Mutation_p.P175S|PTK2_uc003yvr.3_Missense_Mutation_p.P589S|PTK2_uc003yvs.3_Missense_Mutation_p.P649S|PTK2_uc011ljr.2_Missense_Mutation_p.P649S|PTK2_uc003yvt.3_Missense_Mutation_p.P671S|PTK2_uc003yvv.3_Missense_Mutation_p.P549S|Mir_28_uc022bbw.1_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	649	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGAGGGTAGGAGGACAATTT	0.488000													18	44					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172797	90172797	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90172797G>A	uc002bof.2	-	16	3403	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M	KIF7_uc010upw.1_Missense_Mutation_p.T595M	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1109					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTCGGAGCGTCACCACCTG	0.587000													28	62					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094419	30094419	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30094419G>A	uc003taq.3	+	7	1293	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PLEKHA8_uc022aba.1_Silent_p.P297P|PLEKHA8_uc003tan.3_Silent_p.P297P	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	297					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGCTCTCCGGAATGCCTCT	0.408000													23	86					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:65413405C>T	uc011moz.2	+	7	1593	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	HEPH_uc004dwn.3_Nonsense_Mutation_p.R435*|HEPH_uc004dwo.3_Nonsense_Mutation_p.R165*|HEPH_uc010nkr.3_Nonsense_Mutation_p.R435*|HEPH_uc011mpa.2_Nonsense_Mutation_p.R435*	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	432	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.H485N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368000													3	15					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250723	35250723	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35250723T>C	uc010edn.1	-	3	1371	c.983A>G	c.(982-984)cAa>cGa	p.Q328R	ZNF599_uc010edm.2_Missense_Mutation_p.Q291R	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCATATGTTGAGCAAATGA	0.428000													19	47					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882150	52882150	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52882150G>A	uc001sam.3	-	6	1595	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	462	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597000													35	128					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48733951	48733951	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:48733951A>C	uc001zwx.2	-	49	6525	c.6130T>G	c.(6130-6132)Ttt>Gtt	p.F2044V	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2044	EGF-like 35; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACAAGGAAAACCCTTCTGGA	0.438000													10	174					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:102503424A>G	uc003pqp.4	+	14	2824	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_uc010kcw.3_Missense_Mutation_p.Y844C|GRIK2_uc003pqo.4_Missense_Mutation_p.Y844C|GRIK2_uc021zdk.1_Missense_Mutation_p.Y657C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	844					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y844*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATTTTTATACAAATCCAAA	0.373000													10	149					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916458	43916458	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43916458G>A	uc003tiw.3	-	5	2661	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.C825C|URGCP_uc003tiv.3_Silent_p.C793C|URGCP_uc003tix.3_Silent_p.C859C|URGCP_uc003tiy.3_Silent_p.C825C|URGCP_uc003tiz.3_Silent_p.C825C|URGCP_uc011kbj.2_Silent_p.C825C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	868					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCAGGGTCGCAGAAGGCCA	0.617000													23	36					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140592	22140592	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22140592A>G	uc003xbn.2	+	4	619	c.471A>G	c.(469-471)ggA>ggG	p.G157G	PIWIL2_uc011kzf.1_Silent_p.G157G|PIWIL2_uc010ltv.2_Silent_p.G157G	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	157					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TACCACTGGGAAGAGCAGCAG	0.532000													22	56					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122811251	122811251	+	Silent	SNP	G	G	A	rs139086659	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122811251G>A	uc003egc.2	+	2	375	c.219G>A	c.(217-219)gcG>gcA	p.A73A	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	73					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527000													27	56					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55433311	55433311	+	Missense_Mutation	SNP	C	C	T	rs145612447		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:55433311C>T	uc001xbm.2	-	17	2282	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	WDHD1_uc010aom.2_Missense_Mutation_p.R248H|WDHD1_uc001xbn.2_Missense_Mutation_p.R608H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	731						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313000													6	16					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48620981	48620981	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48620981C>T	uc002pia.1	-	25	2617	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	LIG1_uc010xze.1_Missense_Mutation_p.D526N|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.D765N|LIG1_uc010xzg.1_Missense_Mutation_p.D802N	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	833					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCCAGTGGTCGGGAATCACA	0.642000								Nucleotide excision repair (NER)					10	28					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692135	31692135	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:31692135G>A	uc002ynw.3	-	0	473	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	73						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGATTGCCGGTCTCACAGT	0.532000													67	151					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173319	57173319	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:57173319G>A	uc001cyk.4	+	8	1663	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	531					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTTCACCTCGCCTGGGCAGT	0.443000													34	120					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180914516	180914516	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:180914516G>A	uc001gok.2	+	8	3432	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	KIAA1614_uc001gol.1_Missense_Mutation_p.R743H|KIAA1614_uc001gom.1_Missense_Mutation_p.R213H|STX6_uc009wxo.1_Non-coding_Transcript	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	1122										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCGTGGGCCGCCTGGTGGAG	0.692000													20	54					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336814	2336814	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2336814G>A	uc002cpy.1	-	21	3871	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	ABCA3_uc010bsk.1_Silent_p.A995A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1053					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGACGGCCAGGGCAGTGGCTG	0.632000													5	193					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556186	35556186	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35556186G>A	uc002nxq.2	+	10	1089	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	HPN_uc002nxr.2_Missense_Mutation_p.G282S|HPN_uc010xsh.1_Missense_Mutation_p.G251S|HPN_uc002nxt.1_Missense_Mutation_p.G166S|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	282	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCAGCTGCCGGCCAGGCCCT	0.617000													15	52					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911653	53911653	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53911653A>G	uc010ydx.2	+	5	1172	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZNF765_uc002qbm.3_Missense_Mutation_p.Q282R|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACCTTCAGTCAGACATATTAC	0.413000													36	86					0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123675925	123675925	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:123675925C>T	uc004bku.2	-	4	958	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	TRAF1_uc011lyg.2_Missense_Mutation_p.R7Q|TRAF1_uc010mvl.2_Missense_Mutation_p.R129Q	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	129					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACAGCCCAGCCGGGCCTTCCA	0.627000													4	101					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867788	31867788	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31867788C>T	uc003nyd.1	-	1	1471	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	EHMT2_uc011don.1_5'Flank|EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.R432Q|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CTTGAGGTGCCGCCTAATGGC	0.647000													17	30					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4828125	4828125	+	Silent	SNP	C	C	T	rs148619854		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4828125C>T	uc002cxq.3	-	8	1101	c.837G>A	c.(835-837)gcG>gcA	p.A279A	SEPT12_uc002cxr.3_Silent_p.A233A|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	279					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.A279A(2)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTCACAGTGCGCCATGTTCT	0.587000													10	20					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426772	111426772	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111426772G>T	uc003dya.3	+	2	734	c.164_splice	c.e2-1	p.G55_splice	PLCXD2_uc003dxz.3_Splice_Site_p.G55_splice	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	55	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTTTGTACAGGCTCACATGA	0.453000													3	16					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077124	34077124	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34077124G>T	uc002hjv.2	-	1	627	c.599C>A	c.(598-600)cCc>cAc	p.P200H		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	200					cell cycle arrest	cytoplasm|cytoskeleton		p.Q199H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGTGGCAGGGCTGGCGCCT	0.711000													18	43					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31619501	31619501	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31619501G>A	uc010zuc.2	+	0	48	c.48G>A	c.(46-48)acG>acA	p.T16T	BPIFB6_uc010zud.2_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	16			T -> M (in dbSNP:rs17301126).			extracellular region	lipid binding										TGACTGGCACGCGAGCTGACC	0.667000													17	26					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777468	57777468	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:57777468G>A	uc003hch.3	+	1	1011	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	REST_uc003hci.3_Missense_Mutation_p.G222S|REST_uc003hcj.1_Missense_Mutation_p.G222S|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	222					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACCGCTGCGGCTACAATAC	0.498000													20	40					0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927707	14927707	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14927707G>A	uc009zia.3	+	0	438	c.303G>A	c.(301-303)gtG>gtA	p.V101V	H2AFJ_uc001rch.4_Non-coding_Transcript	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	Homo sapiens H2A histone family, member J (H2AFJ), transcript variant 1, mRNA.	101					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TGGGCAAAGTGACCATCGCTC	0.607000													5	152					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192622	152192622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152192622C>T	uc001ezt.1	-	2	1559	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	495					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTCCG	0.542000													5	416					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990478	233990478	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233990478G>A	uc010zmo.2	+	3	526	c.373G>A	c.(373-375)Gag>Aag	p.E125K	INPP5D_uc010zmp.2_Missense_Mutation_p.E124K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	125					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCTCCACCCGAGCTGCCCCC	0.612000													5	23					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030638	154030638	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154030638G>A	uc001fdw.3	-	21	3106	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.R1012C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1012						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAATGGGCGTTTGGAAGAG	0.393000													40	89					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84693388	84693388	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84693388G>A	uc002fig.3	+	3	1301	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	KLHL36_uc010chl.3_Intron	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	387										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577000													17	44					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7837803	7837803	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7837803G>A	uc002gjp.3	+	3	1326	c.376G>A	c.(376-378)Gct>Act	p.A126T	TRAPPC1_uc002gjo.2_5'Flank|TRAPPC1_uc021tpk.1_5'Flank|TRAPPC1_uc021tpl.1_5'Flank|TRAPPC1_uc021tpm.1_5'Flank|CNTROB_uc002gjq.3_Missense_Mutation_p.A126T|CNTROB_uc002gjr.3_Missense_Mutation_p.A28T|CNTROB_uc010vum.1_5'Flank	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	126					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATTCCTGGCGCTGGCTCAGA	0.542000													13	26					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40294929	40294929	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40294929C>T	uc001zkm.1	+	21	3225	c.3175C>T	c.(3175-3177)Cgt>Tgt	p.R1059C	EIF2AK4_uc010bbj.1_Missense_Mutation_p.R760C|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R159C|EIF2AK4_uc001zko.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1059	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.R1059S(2)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTCAATCCGTACAGCCAA	0.383000													41	88					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49170939	49170939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49170939C>T	uc001rsh.4	-	4	1984	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ADCY6_uc001rsi.4_Missense_Mutation_p.D442N|ADCY6_uc001rsj.4_Missense_Mutation_p.D442N|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	442					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGGCATGGTCGGCCCGGGCC	0.577000													60	153					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10690405	10690405	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10690405C>T	uc002mpd.3	-	6	893	c.809G>A	c.(808-810)cGc>cAc	p.R270H	AP1M2_uc002mpc.3_Missense_Mutation_p.R268H	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	268	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGCTGAGGCGGTATGACAT	0.607000													33	92					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18916805	18916805	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18916805G>A	uc002gut.1	+	9	1154	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	SLC5A10_uc002gur.1_Silent_p.K288K|SLC5A10_uc002guu.1_Silent_p.K355K|SLC5A10_uc002guv.1_Silent_p.K328K|SLC5A10_uc010vyl.1_Intron	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	355					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTACCCCAAGCTGGTCATGG	0.652000													21	58					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6519838	6519838	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6519838C>A	uc001mdw.4	+	2	957	c.393C>A	c.(391-393)gtC>gtA	p.V131V	DNHD1_uc001mdp.3_Silent_p.V131V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	131					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCATTGTCCAGGCCTTTC	0.587000													8	221					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61175177	61175177	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:61175177C>T	uc010fci.3	-	16	1511	c.1451_splice	c.e16+1	p.T484_splice	PUS10_uc002sao.3_Splice_Site_p.T484_splice|PUS10_uc010ypk.2_Splice_Site_p.T261_splice	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	484			T -> I (in a colorectal cancer sample; somatic mutation).		pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGAAGGATACGTGCCAGCCT	0.552000													30	113					0	0	1	0	0
FLJ00285	0	broad.mit.edu	37	16	15222208	15222208	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:15222208C>T	uc002ddh.2	-	4	1269	c.877G>A	c.(877-879)Gac>Aac	p.D293N	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_Missense_Mutation_p.D69N|FLJ00285_uc010uzt.2_Missense_Mutation_p.D293N					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		CTCCGGCTGTCCACCCCATAC	0.672000													6	37					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61613357G>A	uc002jay.3	+	5	1509	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602000													23	50					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091242	95091242	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:95091242C>T	uc003klm.3	+	5	1362	c.825C>T	c.(823-825)tgC>tgT	p.C275C	RHOBTB3_uc003klk.1_Silent_p.C69C	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	275	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCGTTCTCTGCGCTGTAAGCC	0.428000													8	120					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18648497	18648497	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18648497C>T	uc002njk.1	-	5	969	c.856G>A	c.(856-858)Gac>Aac	p.D286N	FKBP8_uc010xqi.1_Missense_Mutation_p.D315N|FKBP8_uc002njj.1_Missense_Mutation_p.D287N|FKBP8_uc021uqp.1_Missense_Mutation_p.D127N	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	286					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGTAGTGGTCGAGCTTCAGC	0.607000													13	45					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113184565	113184565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:113184565G>A	uc003eag.4	-	10	1513	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Nonsense_Mutation_p.R304*	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	408					cell division|mitosis	centriole|spindle	protein binding	p.H407Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATGAGCTCTCGATGATCACCT	0.388000													18	54					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	C	T	rs148654261		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:91769874C>T	uc002bqv.3	+	2	1272	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_uc002bqt.3_Silent_p.F127F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512000													10	40					0	0	1	0	0
CLTA	1211	broad.mit.edu	37	9	36211633	36211633	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:36211633C>T	uc003zzc.3	+	6	810	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CLTA_uc022bgo.1_3'UTR|CLTA_uc022bgp.1_Silent_p.D121D|CLTA_uc011lpk.2_Silent_p.D185D|CLTA_uc003zzd.3_Silent_p.D191D|CLTA_uc003zze.3_Silent_p.D173D	NM_007096	NP_009027	P09496	CLCA_HUMAN	Homo sapiens clathrin, light chain A (CLTA), transcript variant 2, mRNA.	203					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity	p.D203H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			ATGACATTGACGAGTCGTCCC	0.537000													40	125					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10570423	10570423	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10570423G>A	uc002moj.2	+	9	1461	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PDE4A_uc021uow.1_Silent_p.T429T|PDE4A_uc002mok.2_Silent_p.T425T|PDE4A_uc002mol.2_Silent_p.T390T|PDE4A_uc002mom.2_Silent_p.T212T|PDE4A_uc002moo.2_Silent_p.T117T	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	451	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCTGGCCACGCCTGCACTAG	0.587000													13	36					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182290	140182290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182290C>T	uc003lhf.2	+	0	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.A503V	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.682000													48	115					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63543657	63543657	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:63543657G>A	uc001sro.1	-	0	2934	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	320					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTCCAGACGGACATGGGAT	0.532000													31	76					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419105	123419105	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:123419105G>A	uc003ego.3	-	17	3492	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	MYLK_uc011bjw.2_Silent_p.D1070D|MYLK_uc003egp.3_Silent_p.D1001D|MYLK_uc003egq.3_Silent_p.D1070D|MYLK_uc003egr.3_Silent_p.D1001D|MYLK_uc003egs.3_Silent_p.D894D|MYLK_uc003egt.3_Silent_p.D261D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1070	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTCTTAACGTCTTTCTTGA	0.522000													90	240					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35176565	35176565	+	Silent	SNP	C	C	T	rs7273824		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:35176565C>T	uc002xfl.1	+	2	409	c.315C>T	c.(313-315)aaC>aaT	p.N105N	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	105	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGATTCGCAACGCCTTTGCCT	0.617000													11	35					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319445	78319445	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78319445G>A	uc002jyh.2	+	29	7600	c.7457G>A	c.(7456-7458)cGg>cAg	p.R2486Q	RNF213_uc021uen.1_Missense_Mutation_p.R2437Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCGACCTGCGGCGTGGTGGT	0.522000													6	118					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781963	128781963	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:128781963C>T	uc001qet.3	+	1	1109	c.795C>T	c.(793-795)gaC>gaT	p.D265D	KCNJ5_uc009zck.3_Silent_p.D265D|KCNJ5_uc001qew.3_Silent_p.D265D	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	265					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACACGGGCGACGACCGCCTCT	0.567000													21	79					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57335125	57335125	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:57335125T>C	uc002ixk.2	+	5	643	c.500T>C	c.(499-501)gTg>gCg	p.V167A	GDPD1_uc002ixj.3_Missense_Mutation_p.V167A|GDPD1_uc021uas.1_Missense_Mutation_p.V167A	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	167	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCAGAGTTGGTGAAGCGGTAT	0.333000													11	52					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3339479	3339479	+	Nonsense_Mutation	SNP	C	C	T	rs139107623		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3339479C>T	uc002cuq.3	+	5	1305	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R325Q(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGACCAGGCCCGAGGGGAGGT	0.597000													32	96					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:133196530G>A	uc003ytj.3	-	2	787	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_uc003yti.3_Missense_Mutation_p.R68W|KCNQ3_uc010mdt.3_Missense_Mutation_p.R188W	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	188					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R188W(4)|p.R188L(1)|p.R188R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTCGGCCCCGCCAGCCTTTG	0.537000													40	115					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359636	16359636	+	Missense_Mutation	SNP	G	G	A	rs147683391		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16359636G>A	uc002wpg.2	-	18	3170	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	KIF16B_uc002wpe.1_Missense_Mutation_p.A386V|KIF16B_uc002wpf.1_Missense_Mutation_p.A386V|KIF16B_uc010gch.2_Missense_Mutation_p.A1004V|KIF16B_uc010gci.2_Missense_Mutation_p.A1004V|KIF16B_uc010gcj.2_Missense_Mutation_p.A1015V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1004	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCTCCAGCGCCTCTCTCTG	0.552000													54	121					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945913	26945913	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:26945913G>A	uc002hbu.3	-	31	5822	c.5719C>T	c.(5719-5721)Cgt>Tgt	p.R1907C		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1907						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGTGCGACGGACCACACTC	0.512000													17	84					0	0	1	0	0
KXD1	79036	broad.mit.edu	37	19	18679399	18679399	+	Silent	SNP	C	C	T	rs144609970	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18679399C>T	uc021uqq.1	+	5	794	c.489C>T	c.(487-489)aaC>aaT	p.N163N	KXD1_uc021uqr.1_Silent_p.N163N|KXD1_uc002njo.3_Silent_p.N163N|KXD1_uc002njq.3_Silent_p.N163N	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	163							protein binding										CAGCCATCAACGGCCGCAGCC	0.672000													30	92					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911540	61911540	+	Missense_Mutation	SNP	C	C	T	rs147427461	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61911540C>T	uc010deb.1	-	7	1387	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SMARCD2_uc010wpt.1_Missense_Mutation_p.R309H|SMARCD2_uc010dea.1_Missense_Mutation_p.R282H	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	357	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGGAAGTAACGGTTGCAGTT	0.602000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987227	7987227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:7987227G>A	uc003mxx.4	+	0	893	c.458G>A	c.(457-459)tGc>tAc	p.C153Y	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		TGCTCCCTCTGCAGTGAGCCG	0.498000													12	51					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212589	113212589	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113212589C>T	uc001vse.1	-	4	656	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	TUBGCP3_uc010tjq.1_Missense_Mutation_p.V147M|TUBGCP3_uc001vsf.3_Missense_Mutation_p.V157M|TUBGCP3_uc001vsg.1_Missense_Mutation_p.V157M	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	157					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCCCACGCTGCCGGAG	0.622000													24	56					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609046	105609046	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105609046C>T	uc001yqg.3	-	25	4107	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	JAG2_uc001yqf.3_Missense_Mutation_p.A639T|JAG2_uc001yqh.3_Missense_Mutation_p.A1197T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1235				A -> V (in Ref. 2; AAB61285).	Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCTTGCCGGCGTAGCGGGCC	0.716000													6	8					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28386876	28386876	+	Splice_Site	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28386876C>A	uc001zbj.3	-	77	11922	c.11816_splice	c.e77+1	p.R3939_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3939					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATATAATAACCTGTTCATCC	0.418000													45	117					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799839	159799839	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159799839G>A	uc001fue.4	+	1	434	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	75						integral to membrane		p.R75R(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACCATTCCCGCTTCCTGGGC	0.607000													15	217					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841860	13841860	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:13841860C>T	uc003jfd.2	-	32	5467	c.5425G>A	c.(5425-5427)Gca>Aca	p.A1809T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1809	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAATATTTGCGGCTGCCTGG	0.398000									Kartagener syndrome				10	74					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117717	58117717	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58117717C>T	uc002qpk.2	+	2	1044	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAAATCATTTAGTCGC	0.433000													22	49					0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34649163	34649163	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34649163C>T	uc010ucc.2	+	7	3336	c.2954C>T	c.(2953-2955)aCa>aTa	p.T985I	C15orf55_uc010ucd.2_Missense_Mutation_p.T975I|C15orf55_uc001zif.3_Missense_Mutation_p.T957I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	957			P -> R (in dbSNP:rs2279684).			cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GAGTCTTACACAACTGGGACT	0.483000			T	"""BRD3, BRD4"""	lethal midline carcinoma								16	39					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615918	100615918	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100615918A>G	uc001ygx.2	-	1	300	c.212T>C	c.(211-213)tTc>tCc	p.F71S		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	71					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GTAGGCCCAGAACAGCAGCCA	0.706000													6	19					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361795	140361795	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140361795G>A	uc010ncj.1	-	25	3350	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	PNPLA7_uc004cnd.1_Missense_Mutation_p.R246W|PNPLA7_uc004cne.1_Missense_Mutation_p.R246W|PNPLA7_uc011mfa.1_Missense_Mutation_p.R388W|PNPLA7_uc004cnf.2_Missense_Mutation_p.R980W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	980	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGGATCCGCATCTGGCTG	0.677000													13	32					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241737144	241737144	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241737144G>A	uc010fzk.3	-	1	273	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KIF1A_uc002vzy.3_Missense_Mutation_p.A9V|KIF1A_uc002vzz.2_Missense_Mutation_p.A9V	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	9	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACCCGCACCGCCACCTTCAC	0.597000													6	24					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396381	127396381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127396381C>T	uc003ejt.3	+	8	924	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ABTB1_uc003ejr.3_Missense_Mutation_p.A137V|ABTB1_uc003ejs.3_Missense_Mutation_p.A254V|ABTB1_uc003eju.3_Missense_Mutation_p.A137V|ABTB1_uc010hsm.3_Intron	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	279	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCCGAGTGGCTGGCTGCAGC	0.632000													24	81					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95115421	95115421	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:95115421C>T	uc001kin.3	-	30	3490	c.3367G>A	c.(3367-3369)Gga>Aga	p.G1123R	MYOF_uc001kio.3_Missense_Mutation_p.G1110R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1123					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGTTTGCTCCGAACACAGTG	0.408000													6	246					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381368	34381368	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34381368G>A	uc003zuh.1	-	4	690	c.472_splice	c.e4+1	p.E158_splice	C9orf24_uc003zug.1_Splice_Site_p.E23_splice|C9orf24_uc022bgb.1_Splice_Site_p.E23_splice|C9orf24_uc003zuf.1_Splice_Site_p.E23_splice|C9orf24_uc003zui.1_Splice_Site_p.E23_splice	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	158										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ACTCTTTACCGTAGGCATTGA	0.627000													55	135					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139530	90139530	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:90139530C>T	uc010yts.2	+	30		c.3588C>T								Parts of antibodies, mostly variable regions.																		CAGCAGCCTGCAGCCTGAAGA	0.493000													59	100					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602600	107602600	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:107602600G>A	uc004bcl.3	-	8	1418	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	338					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|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	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor 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)	CTTCCTCAGTGCCATTGCCTC	0.542000													6	72					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218871	134218871	+	Silent	SNP	C	C	T	rs145952219	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:134218871C>T	uc001lll.4	+	1	896	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PWWP2B_uc009ybe.3_Silent_p.D289D	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	289										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGCAGGACGACGGCAGCCAGG	0.701000													16	48					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649198	47649198	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:47649198C>T	uc010jzj.1	+	5	904	c.903C>T	c.(901-903)aaC>aaT	p.N301N	GPR111_uc003oyy.3_Silent_p.N233N	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	301					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGAGATAACATTGGAAAAA	0.388000													33	82					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127348	152127348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152127348G>A	uc001ezs.1	-	2	2292	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	743	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R743Q(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTCGTCTCTGATGG	0.522000													6	401					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785896	53785896	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53785896G>A	uc003dgv.4	+	27	3800	c.3637G>A	c.(3637-3639)Gtc>Atc	p.V1213I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V1233I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V1213I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V880I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V361I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1213					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.N1212T(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATGATGTTTGTCCTCATCAT	0.527000													17	197					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526456	54526456	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:54526456C>T	uc002iun.1	+	9	1160	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	375								p.D375H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTATGACGACAGAGAGC	0.483000													16	52					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13949263	13949263	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:13949263A>T	uc021zzz.1	-	8	1021	c.934T>A	c.(934-936)Ttc>Atc	p.F312I	ETV1_uc021zzt.1_Missense_Mutation_p.F272I|ETV1_uc021zzu.1_Missense_Mutation_p.F209I|ETV1_uc021zzv.1_Missense_Mutation_p.F254I|ETV1_uc021zzw.1_Missense_Mutation_p.N271K|ETV1_uc021zzx.1_Missense_Mutation_p.N208K|ETV1_uc021zzy.1_Missense_Mutation_p.N253K|ETV1_uc022aaa.1_Missense_Mutation_p.F294I|ETV1_uc022aab.1_Missense_Mutation_p.N311K|ETV1_uc003ssw.4_Missense_Mutation_p.F289I|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.N293K|ETV1_uc022aad.1_Missense_Mutation_p.N293K|ETV1_uc010ktv.3_Missense_Mutation_p.N180K	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTACCATCGAATTTTTCTGGG	0.383000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	140					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44431997G>A	uc003tkz.3	-	4	1060	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	292										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCCATGGAGCGCTCCTTGTTG	0.572000													47	119					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002649	30002649	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30002649G>A	uc002dvc.2	+	18	3727	c.2910G>A	c.(2908-2910)ccG>ccA	p.P970P	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	859	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTCAGCCGTCTCTGCTGG	0.711000													4	45					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72420933	72420933	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72420933G>A	uc001osu.3	-	10	1694	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ARAP1_uc001osv.3_Missense_Mutation_p.T502M|ARAP1_uc001osr.3_Missense_Mutation_p.T262M|ARAP1_uc001oss.3_Missense_Mutation_p.T257M|ARAP1_uc009yth.3_Missense_Mutation_p.T257M|ARAP1_uc010rre.2_Missense_Mutation_p.T257M	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	502	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGTAGGGCGTGGTGAGGTC	0.587000													27	78					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130198257	130198257	+	Silent	SNP	C	C	T	rs148235940	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130198257C>T	uc004bqw.4	+	3	717	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF79_uc011maf.2_Silent_p.G77G|ZNF79_uc011mag.2_Silent_p.G77G	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TGCTGGAGGGCGAAGACCTGC	0.507000													7	111					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51993254	51993254	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51993254C>T	uc003dcc.2	-	6	1475	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PCBP4_uc003dcb.2_Missense_Mutation_p.V197M|PCBP4_uc003dcf.2_Missense_Mutation_p.V231M|PCBP4_uc003dce.2_Missense_Mutation_p.R232H|PCBP4_uc003dcg.2_Missense_Mutation_p.V197M|PCBP4_uc003dcj.2_Missense_Mutation_p.V231M|PCBP4_uc003dck.2_Missense_Mutation_p.V188M|PCBP4_uc003dch.2_Missense_Mutation_p.V231M|PCBP4_uc003dci.2_Missense_Mutation_p.V71M			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	231	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTGGCACCACGCTGGGTGTG	0.627000													19	60					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61492927	61492927	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61492927C>T	uc002jal.4	+	22	3830	c.3807C>T	c.(3805-3807)taC>taT	p.Y1269Y	TANC2_uc010wpe.2_Silent_p.Y1179Y|TANC2_uc002jao.4_Silent_p.Y380Y	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1269							binding	p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512000													11	32					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772604	4772604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:4772604C>T	uc001alm.1	+	1	1055	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AJAP1_uc001aln.3_Missense_Mutation_p.T225M	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccacggccaccccc	0.612000													17	35					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:78647236C>T	uc001jxn.3	-	27	3676	c.3499G>A	c.(3499-3501)Gtg>Atg	p.V1167M	KCNMA1_uc021ptu.1_Missense_Mutation_p.V1059M|KCNMA1_uc001jxj.2_Missense_Mutation_p.V1113M|KCNMA1_uc001jxk.1_Missense_Mutation_p.V785M|KCNMA1_uc009xrt.1_Missense_Mutation_p.V958M|KCNMA1_uc001jxl.1_Missense_Mutation_p.V792M|KCNMA1_uc001jxo.3_Missense_Mutation_p.V1150M|KCNMA1_uc001jxm.3_Missense_Mutation_p.V1109M|KCNMA1_uc001jxq.3_Missense_Mutation_p.V1139M|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1167					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGTCGGCACGAGCTCAAAC	0.547000													24	55					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:78686713G>A	uc004akc.2	+	6	1331	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PCSK5_uc004ajy.2_Missense_Mutation_p.V265M|PCSK5_uc004ajz.3_Missense_Mutation_p.V265M|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	265	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCAGCACGTGCACATTTA	0.542000													5	232					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886833	25886833	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:25886833G>A	uc001isj.3	+	10	2338	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	GPR158_uc001isk.3_Missense_Mutation_p.E135K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	760						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T759K(1)|p.T759M(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGCATTACGGAGATCCCAGA	0.532000													4	169					0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1067393	1067393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1067393G>A	uc003gcj.3	-	8	668	c.568C>T	c.(568-570)Cga>Tga	p.R190*	RNF212_uc003gci.3_Nonsense_Mutation_p.R190*|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	190							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTACCCATTCGTCCATCTTGA	0.413000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285686	248285686	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248285686G>A	uc001idy.1	+	0	249	c.249G>A	c.(247-249)ctG>ctA	p.L83L						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		CCTGGATCCTGGGCTCTACAG	0.453000													12	271					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657848	34657848	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34657848C>T	uc001zig.3	-	1	263	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	LPCAT4_uc010bav.1_Missense_Mutation_p.V57I	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	57					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGAAAGAGGACGATAAAGGCC	0.552000													18	31					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14366990	14366990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:14366990G>A	uc003jff.3	+	15	2782	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.G877R|TRIO_uc003jfh.1_Missense_Mutation_p.G575R	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	926					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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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)					GATCCGCAACGGAGAGTCCAT	0.537000													28	106					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252746	17252746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:17252746G>A	uc002dfa.3	-	5	1395	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	437					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGAGAAACGCCACCAACTG	0.488000													32	45					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977620	12977620	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12977620G>A	uc003bxt.2	-	2	947	c.938C>T	c.(937-939)tCg>tTg	p.S313L	IQSEC1_uc003bxu.3_Missense_Mutation_p.S191L|IQSEC1_uc011auw.1_Missense_Mutation_p.S299L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	313					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGGGGCGACAGCTCCTC	0.677000													45	93					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:74003402C>T	uc010wss.1	-	21	6178	c.5950G>A	c.(5950-5952)Ggg>Agg	p.G1984R	EVPL_uc002jqi.2_Missense_Mutation_p.G1962R|EVPL_uc010wst.1_Missense_Mutation_p.G1432R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1962	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATCATCCCGGAGAGGAGG	0.627000													7	84					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962457	165962457	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:165962457A>G	uc003iqy.1	+	2	1403	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	TRIM60_uc010iqx.1_Silent_p.K411K|TRIM60_uc021xty.1_Silent_p.K411K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	411	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTAGTAAAACCCAGTAAAA	0.398000													25	74					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17735625	17735625	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17735625C>A	uc001bal.3	-	11	1579	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	RCC2_uc001bam.3_Missense_Mutation_p.K510N	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	510					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547000													7	170					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47069466	47069466	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:47069466C>T	uc004dhj.4	+	17	2294	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	UBA1_uc004dhk.4_Missense_Mutation_p.H715Y|UBA1_uc004dhm.3_Missense_Mutation_p.H163Y	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	715					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCACTGGCACACCCAGTA	0.607000													5	40					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87006704	87006704	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87006704T>G	uc003uiu.3	+	10	1245	c.1000T>G	c.(1000-1002)Tgg>Ggg	p.W334G	CROT_uc003uit.3_Missense_Mutation_p.W306G	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	306					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACAGTACGCTGGGGTGACAA	0.294000													8	22					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233621023	233621023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233621023C>T	uc002vtj.4	+	6	625	c.358C>T	c.(358-360)Cga>Tga	p.R120*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R120*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R120*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.R120*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.R120*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.R120*|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	120	Arg-rich.				cell death		protein binding	p.R120R(3)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCTAGAGGTCGAAGTTCTTC	0.443000													9	32					0	0	1	0	0
NFYA	4800	broad.mit.edu	37	6	41062195	41062195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41062195C>T	uc003opo.3	+	8	1127	c.949C>T	c.(949-951)Cga>Tga	p.R317*	NFYA_uc003opp.3_Nonsense_Mutation_p.R288*|NFYA_uc003opq.3_Nonsense_Mutation_p.R288*	NM_002505	NP_002496	P23511	NFYA_HUMAN	Homo sapiens nuclear transcription factor Y, alpha (NFYA), transcript variant 1, mRNA.	317					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R317R(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTGGACGATTTTTCTC	0.388000													3	49					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60749651	60749651	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:60749651C>T	uc011aaa.1	+	9	1170	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Missense_Mutation_p.P372L|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	372	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TACCGAGCACCGCAGACAGCG	0.637000			T	SSX1	synovial sarcoma								4	193					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914549	32914549	+	Silent	SNP	C	C	T	rs147961615	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:32914549C>T	uc001uub.1	+	10	6284	c.6057C>T	c.(6055-6057)aaC>aaT	p.N2019N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2019					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAAGTAACGAACATTCAG	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	87					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398616	197398616	+	Missense_Mutation	SNP	G	G	A	rs114052315	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:197398616G>A	uc001gtz.3	+	7	2923	c.2714G>A	c.(2713-2715)cGg>cAg	p.R905Q	CRB1_uc010poz.2_Missense_Mutation_p.R881Q|CRB1_uc009wza.3_Missense_Mutation_p.R793Q|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R386Q|CRB1_uc001gub.1_Missense_Mutation_p.R554Q	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	905	EGF-like 13.		R -> Q.		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCATTCCCGGTGGGATGAC	0.507000													43	100					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84884584	84884584	+	Silent	SNP	C	C	T	rs143508247		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:84884584C>T	uc010kbp.3	-	14	1984	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	KIAA1009_uc003pkj.4_Silent_p.A553A|KIAA1009_uc003pkk.2_3'UTR|KIAA1009_uc003pki.4_Silent_p.A15A	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	629					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.A629A(2)|p.A629V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373000													7	24					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050601	32050601	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32050601G>A	uc001bta.3	+	6	947	c.821G>A	c.(820-822)cGt>cAt	p.R274H	TINAGL1_uc010ogj.2_Missense_Mutation_p.R243H|TINAGL1_uc010ogk.1_Missense_Mutation_p.R274H|TINAGL1_uc021oko.1_Missense_Mutation_p.R169H	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	274					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	p.R274C(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCGGTGGGCGTCTCGATGGT	0.642000													33	101					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48626217	48626217	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48626217C>T	uc002pia.1	-	22	2326	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	LIG1_uc010xze.1_Missense_Mutation_p.A429T|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.A668T|LIG1_uc010xzg.1_Missense_Mutation_p.A705T	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	736					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATCTCTTGGCGATCTCGTAG	0.597000								Nucleotide excision repair (NER)					40	124					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614283	46614283	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:46614283G>A	uc003bhb.1	+	3	616	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	PPARA_uc003bgw.1_Missense_Mutation_p.G165R|PPARA_uc003bgx.1_Missense_Mutation_p.G165R|PPARA_uc010hab.1_Missense_Mutation_p.G165R|PPARA_uc003bha.3_Missense_Mutation_p.G165R|PPARA_uc010hac.1_Silent_p.S29S	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	165					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTTTCTGTCGGGATGTCACA	0.488000													55	152					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664011	68664011	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68664011G>A	uc010rqe.1	-	3	393	c.368C>T	c.(367-369)gCg>gTg	p.A123V	MRPL21_uc001ooh.3_Missense_Mutation_p.A38V|MRPL21_uc001ooi.3_Missense_Mutation_p.A123V	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	123					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTCCACACGCAAGGTCTAG	0.532000													50	156					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26689975G>A	uc002rhk.3	-	34	4481	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_uc010yla.2_Missense_Mutation_p.R182C|OTOF_uc002rhh.3_Missense_Mutation_p.R685C|OTOF_uc002rhi.3_Missense_Mutation_p.R762C|OTOF_uc002rhj.3_Missense_Mutation_p.R685C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1452					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642000													21	58					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197976	19197976	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:19197976G>T	uc021wle.1	-	19	3184	c.3109C>A	c.(3109-3111)Cgc>Agc	p.R1037S	CLTCL1_uc021wld.1_Missense_Mutation_p.R1037S|CLTCL1_uc021wlc.1_Missense_Mutation_p.R1037S|CLTCL1_uc021wlf.1_Missense_Mutation_p.R1037S|CLTCL1_uc011agw.1_Missense_Mutation_p.R1037S|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_5'UTR|CLTCL1_uc002zpe.2_5'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1037	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCGTGTGCGGTCTGCCTTG	0.562000			T	?	ALCL								10	43					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156702121G>A	uc001fpu.3	+	2	919	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_uc001fpv.3_Silent_p.A95A	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.A95V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592000													18	53					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362955	55362955	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:55362955G>A	uc002ehy.3	+	4	1598	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	IRX6_uc002ehx.3_Silent_p.A355A	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	355						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGTCTCTGGCGCACACCGCGA	0.627000													30	30					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149474811C>T	uc010lpk.3	+	4	610	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	204	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687000													7	25					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67042963	67042963	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67042963G>A	uc002eqv.3	+	11	1578	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	CES4A_uc010vix.2_Missense_Mutation_p.A468T|CES4A_uc002eqw.3_Missense_Mutation_p.A441T|CES4A_uc010viy.2_Missense_Mutation_p.A374T|CES4A_uc002eqx.3_Missense_Mutation_p.G341D|CES4A_uc002eqy.3_Missense_Mutation_p.G437D	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	535						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAAGAGTGGGCATGAAGCTC	0.483000													5	160					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:50467961A>G	uc003tow.4	+	7	1351	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	IKZF1_uc022acq.1_Missense_Mutation_p.D256G|IKZF1_uc003tpa.4_Missense_Mutation_p.D164G|IKZF1_uc022acr.1_Missense_Mutation_p.D174G|IKZF1_uc022acs.1_Missense_Mutation_p.D129G|IKZF1_uc022act.1_Missense_Mutation_p.D302G|IKZF1_uc022acu.1_Missense_Mutation_p.D312G|IKZF1_uc003tox.4_Missense_Mutation_p.D357G|IKZF1_uc022acv.1_Missense_Mutation_p.D260G|IKZF1_uc022acw.1_Missense_Mutation_p.D270G|IKZF1_uc022acx.1_Missense_Mutation_p.D312G|IKZF1_uc022acy.1_Missense_Mutation_p.D206G|IKZF1_uc022acz.1_Missense_Mutation_p.D216G|IKZF1_uc011kck.2_Missense_Mutation_p.D312G|IKZF1_uc003toy.4_Missense_Mutation_p.D357G|IKZF1_uc003toz.4_Missense_Mutation_p.D369G|IKZF1_uc010kyx.3_Missense_Mutation_p.D139G	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	23					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528611	9528611	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:9528611C>T	uc002qzh.2	+	21	2659	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ASAP2_uc002qzi.2_Silent_p.P773P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	773	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCACCTCCCGCCCAGCCTG	0.587000													13	41					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686643	3686643	+	Missense_Mutation	SNP	C	C	T	rs144297916		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3686643C>T	uc002wja.3	-	2	454	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SIGLEC1_uc002wiz.4_Missense_Mutation_p.E152K|SIGLEC1_uc002wjc.3_Missense_Mutation_p.E63K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	152	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGTGCCCTCGAGAAGCTCC	0.627000													35	72					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86007450	86007450	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:86007450G>A	uc001kdd.1	+	1	221	c.183G>A	c.(181-183)gcG>gcA	p.A61A	RGR_uc001kdb.1_Missense_Mutation_p.G45R|RGR_uc001kdc.1_Silent_p.A61A|RGR_uc001kde.1_Silent_p.A61A	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	61					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGCTCTTGCGGACAGTGGGA	0.627000													37	127					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412196	154412196	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:154412196C>T	uc011efe.2	+	4	1555	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	OPRM1_uc011efd.2_Silent_p.T151T|OPRM1_uc011efc.1_Silent_p.T170T|OPRM1_uc003qpn.2_Silent_p.T251T|OPRM1_uc003qpo.1_Silent_p.T251T|OPRM1_uc011eff.1_Silent_p.T251T|OPRM1_uc011efg.1_Silent_p.T251T|OPRM1_uc011efi.2_Silent_p.T251T|OPRM1_uc011efh.1_Silent_p.T251T|OPRM1_uc003qpq.1_Silent_p.T251T|OPRM1_uc003qpr.2_Silent_p.T251T|OPRM1_uc003qpt.1_Silent_p.T251T|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.T151T|OPRM1_uc003qpu.2_Silent_p.T151T	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	251					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.T251T(2)|p.T344T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCATTACCGTGTGCTATG	0.473000													23	92					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581902	84581902	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:84581902C>T	uc002bjz.4	+	15	1983	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R587C	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	587	TSP type-1 4.		R -> H (in a colorectal cancer sample; somatic mutation).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R587H(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602000													35	80					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148701135	148701135	+	Silent	SNP	G	G	A	rs145077850	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:148701135G>A	uc003wff.2	-	9	1971	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	563	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582000													35	98					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33799804	33799804	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33799804C>T	uc009vuh.1	-	9	2137	c.1648G>A	c.(1648-1650)Ggc>Agc	p.G550S	PHC2_uc001bxg.1_Missense_Mutation_p.G549S|PHC2_uc001bxh.1_Missense_Mutation_p.G521S|PHC2_uc001bxe.1_Missense_Mutation_p.G14S|PHC2_uc001bxf.1_5'UTR|MIR3605_uc021okw.1_5'Flank	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	549					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGCAGTGCCGGCGATGCTG	0.582000													51	109					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750489	140750489	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140750489G>A	uc003ljw.2	+	0	528	c.528G>A	c.(526-528)ccG>ccA	p.P176P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.P176P	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	176	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGATCCGCACTTCTCTT	0.542000													20	308					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220399917	220399917	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:220399917G>A	uc002vlz.3	+	5	1655	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	ASIC4_uc002vma.3_Missense_Mutation_p.G475D|ASIC4_uc002vmb.3_Missense_Mutation_p.G148D	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	475						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GGCCCTGAGGGCCCGTGCTTC	0.642000													21	51					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:151671792G>A	uc011eep.2	+	3	2506	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_uc003qoe.3_Missense_Mutation_p.V756I|AKAP12_uc003qof.3_Missense_Mutation_p.V658I|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.V651I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537000													58	166					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312644G>A	uc010uxg.2	-	1	402	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	50					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGATCTCCCGCCGAATCCGC	0.632000													35	98					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498257	73498257	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73498257G>A	uc002joc.3	-	17	3448	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	CASKIN2_uc010wsc.2_Silent_p.P884P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	966	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCAGCGGGCTTCGGGC	0.672000													21	38					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127503	55127503	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55127503G>A	uc003han.4	+	2	622	c.291G>A	c.(289-291)ttG>ttA	p.L97L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Silent_p.L97L|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	97	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACACAGGGTTGTACACTTGCT	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	303					0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90451588	90451588	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90451588G>A	uc002bos.4	-	2	380	c.225C>T	c.(223-225)gaC>gaT	p.D75D	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.D75D	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	75					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										TTCCCTTGGCGTCGAATTTAC	0.582000													31	61					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582840	183582840	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:183582840C>A	uc002uow.1	+	2	442	c.27C>A	c.(25-27)gaC>gaA	p.D9E	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.D9E|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	9					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353000													18	48					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685806	2685806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2685806G>A	uc003mty.4	-	4	643	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	116	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGCCGAAACGCCCTCTGCCA	0.577000													31	72					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925751	6925751	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:6925751G>A	uc011bwg.2	+	1	714	c.635G>A	c.(634-636)cGt>cAt	p.R212H	TBC1D14_uc003gjs.4_Missense_Mutation_p.R212H	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	212						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGAAACCCGTGGCTTACAC	0.483000													17	30					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18504839G>A	uc003zne.4	+	1	228	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ADAMTSL1_uc003znb.3_Missense_Mutation_p.A26T|ADAMTSL1_uc003znc.4_Missense_Mutation_p.A26T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	26						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCAGGACCGCACGCTCCGA	0.577000													48	141					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698501	43698501	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698501T>C	uc002ovy.3	-	4	1336	c.1234A>G	c.(1234-1236)Aaa>Gaa	p.K412E	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.K319E|PSG4_uc002owb.3_Missense_Mutation_p.K319E	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	412					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGAGACTTTGACTGTGATG	0.463000													82	220					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406185	91406185	+	Silent	SNP	C	C	T	rs148356542	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:91406185C>T	uc001dnw.3	-	2	1009	c.726G>A	c.(724-726)acG>acA	p.T242T	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.T242T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGAAATTCCCGTTACTGTAT	0.368000													12	159					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:37609603G>A	uc002yvg.3	+	15	2745	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q	DOPEY2_uc011aeb.2_Intron	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	889					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592000													6	89					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14267939	14267939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14267939C>T	uc010xnn.2	-	15	3075	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	LPHN1_uc010xno.2_Missense_Mutation_p.A922T|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAGGCCGGCGAAGATGGGG	0.642000													15	36					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199798	44199798	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44199798G>A	uc003oww.1	+	10	1357	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	SLC29A1_uc003owu.1_Missense_Mutation_p.V310M|SLC29A1_uc003owv.1_Missense_Mutation_p.V310M|SLC29A1_uc003owx.1_Missense_Mutation_p.V310M|SLC29A1_uc003owy.1_Missense_Mutation_p.V310M|SLC29A1_uc003owz.1_Missense_Mutation_p.V310M	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	310					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GTTTCCAGCCGTGACTGTTGA	0.527000													15	31					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156517	120156517	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:120156517G>A	uc001txj.2	-	30	4046	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S	CIT_uc001txh.2_Silent_p.S807S|CIT_uc001txi.2_Silent_p.S1288S	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1288					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCCCGGGCGGACCGGAGCT	0.552000													5	149					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100357394	100357394	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100357394G>A	uc003uwj.3	+	17	3787	c.3622G>A	c.(3622-3624)Gtg>Atg	p.V1208M	ZAN_uc003uwk.3_Missense_Mutation_p.V1208M|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1208	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGAAGGCGTGTCCTGCCT	0.582000													6	10					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045655	142045655	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:142045655A>G	uc003vxp.4	+	1	292	c.183A>G	c.(181-183)ccA>ccG	p.P61P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTAAGAAGCCACTGGAGCTCA	0.433000													32	206					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004485	40004485	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40004485C>T	uc010cxr.3	+	4	1895	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W	KLHL10_uc010wfw.2_Missense_Mutation_p.R497W	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	585						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGCAGCTAGACGGGACAACTT	0.453000													4	145					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210851	205210851	+	Silent	SNP	C	C	T	rs140397839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205210851C>T	uc021pia.1	+	1	1081	c.426C>T	c.(424-426)ccC>ccT	p.P142P	TMCC2_uc010prf.2_Silent_p.P64P	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	142						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.682000													9	34					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507412G>A	uc003ncb.3	+	4	556	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.A79T|CAP2_uc011djb.2_Missense_Mutation_p.A105T|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	105					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.A105T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473000													19	54					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73759207	73759207	+	Missense_Mutation	SNP	C	C	T	rs139858654	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73759207C>T	uc002jpk.3	-	3	562	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	167					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACACCTGGGCGCGGGCAGCT	0.612000													26	75					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434790	64434790	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64434790C>T	uc021qkw.1	-	8	2192	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	NRXN2_uc021qkx.1_Missense_Mutation_p.R546Q|NRXN2_uc001oas.3_Missense_Mutation_p.R546Q|NRXN2_uc001oaq.3_Missense_Mutation_p.R244Q	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	577	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGATGCCCGCAGCTTGAT	0.597000													7	140					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993838	144993838	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144993838G>A	uc003zaf.1	-	31	10732	c.10562C>T	c.(10561-10563)aCg>aTg	p.T3521M	PLEC_uc003zab.1_Missense_Mutation_p.T3384M|PLEC_uc003zac.1_Missense_Mutation_p.T3388M|PLEC_uc003zad.2_Missense_Mutation_p.T3384M|PLEC_uc003zae.1_Missense_Mutation_p.T3352M|PLEC_uc003zag.1_Missense_Mutation_p.T3362M|PLEC_uc003zah.2_Missense_Mutation_p.T3370M|PLEC_uc003zaj.2_Missense_Mutation_p.T3411M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3521	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCGCAGCCGTTGTGGCTCT	0.687000													13	35					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681014	52681014	+	Silent	SNP	G	G	A	rs140192619		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52681014G>A	uc001sab.3	-	6	1169	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_5'UTR	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	373	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCAGGGCGCCCTCCAGCT	0.642000													21	87					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647099	14647099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:14647099G>A	uc003ssz.3	-	15	1583	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	DGKB_uc011jxt.2_Missense_Mutation_p.R447C|DGKB_uc003sta.3_Missense_Mutation_p.R466C|DGKB_uc011jxu.2_Missense_Mutation_p.R465C	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	466	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R466G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TAAACCTGACGAGGATTTAAT	0.279000													13	24					0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000													4	134					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25149160	25149160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:25149160C>T	uc001rgf.3	-	1	322	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TATAATTTGTCAGACGGGCAA	0.423000													4	106					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641823	99641823	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:99641823C>T	uc001yga.3	-	3	1617	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	BCL11B_uc001ygb.3_Silent_p.T379T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	450						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647000			T	TLX3	T-ALL								13	30					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488820	19488820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:19488820G>A	uc002dgc.4	+	12	2898	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	TMC5_uc010vaq.2_Missense_Mutation_p.V665M|TMC5_uc002dgb.4_Missense_Mutation_p.V717M|TMC5_uc010var.2_Missense_Mutation_p.V717M|TMC5_uc002dgd.1_Missense_Mutation_p.V471M|TMC5_uc002dge.4_Missense_Mutation_p.V471M|TMC5_uc002dgf.4_Missense_Mutation_p.V400M|TMC5_uc002dgg.4_Missense_Mutation_p.V358M	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	717						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAACACCGTGGCCCTGTC	0.413000													31	64					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857821	149857821	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:149857821T>C	uc001etc.3	-	0	412	c.370A>G	c.(370-372)Agc>Ggc	p.S124G	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACTTGGAGCTGGTGTACTTG	0.657000													19	71					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856694	12856694	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12856694C>T	uc003bxk.2	+	7	1110	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	CAND2_uc003bxj.2_Missense_Mutation_p.A261V	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	354					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGCCGGGCAGCTGCCAAG	0.597000													19	49					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133738400	133738400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133738400C>T	uc004bzw.3	+	3	803	c.800C>T	c.(799-801)aCg>aTg	p.T267M	ABL1_uc004bzv.3_Missense_Mutation_p.T286M|AX748265_uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	267	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.L248_K274del(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TACAGCCTGACGGTGGCCGTG	0.622000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								11	29					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90149114	90149114	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90149114C>T	uc003kju.3	+	79	17314	c.17218C>T	c.(17218-17220)Ctt>Ttt	p.L5740F	GPR98_uc003kjt.3_Missense_Mutation_p.L3446F|GPR98_uc003kjw.3_Missense_Mutation_p.L1401F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5740					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAAACCATCCTTGATAGTTG	0.353000													4	108					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80548556	80548556	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:80548556C>T	uc003khc.4	+	3	437	c.195C>T	c.(193-195)gcC>gcT	p.A65A	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.A65A|CKMT2_uc003khd.4_Silent_p.A65A|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTGCATGGCCGAGTGCCTCA	0.622000													21	62					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:37028757C>T	uc004ddl.2	+	0	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	758								p.R758R(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632000													12	62					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884341	23884341	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23884341C>T	uc001wjx.3	-	36	5528	c.5422G>A	c.(5422-5424)Ggc>Agc	p.G1808S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1808					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTTCTTGCCGCCCTTGAGG	0.622000													44	110					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113057604	113057604	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:113057604C>T	uc001ecb.3	+	1	806	c.291C>T	c.(289-291)ggC>ggT	p.G97G	WNT2B_uc001eca.3_Silent_p.G78G|WNT2B_uc009wgg.3_Silent_p.G5G	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	97					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAGTGGGCGAGGGTGCCC	0.622000													20	61					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62385086C>T	uc003dll.2	-	29	4417	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_uc003dlj.1_Missense_Mutation_p.D308N|CADPS_uc003dlk.1_Missense_Mutation_p.D801N|CADPS_uc003dlm.2_Missense_Mutation_p.D1314N|CADPS_uc003dln.2_Missense_Mutation_p.D1274N|CADPS_uc021wzv.1_Missense_Mutation_p.D1344N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1353	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488000													30	74					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878142	49878142	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49878142C>T	uc002pnk.3	+	4	800	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	DKKL1_uc021uxk.1_Missense_Mutation_p.R121C|DKKL1_uc021uxl.1_Missense_Mutation_p.R165C	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	196					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAAGCGACACCGCCTGCAGGC	0.662000													13	37					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090718	238090718	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:238090718G>A	uc010pyc.2	+	11		c.2224G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GATCCTCACCGAGCGTGGCTA	0.612000													10	24					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44100941	44100941	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:44100941C>T	uc002rtq.3	+	8	1317	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N	ABCG8_uc010yoa.2_Silent_p.N408N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	409					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATTTCCAACGACTTCCGAG	0.542000													54	98					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356944	13356944	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:13356944T>C	uc003wwm.2	-	1	1081	c.637A>G	c.(637-639)Act>Gct	p.T213A	DLC1_uc003wwn.3_Missense_Mutation_p.T213A|DLC1_uc011kxy.2_Missense_Mutation_p.T213A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	213					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACGTTCAAAGTATCCACTGCA	0.383000													5	229					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272875	28272875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:28272875G>A	uc009xky.3	-	5	814	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.P239L|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	239							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTCTCCACGGTGGGGCTCG	0.408000													6	41					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902802	4902802	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4902802G>A	uc002mbm.3	-	0	78	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	26					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCTATCCTCGGGCAGCACTA	0.552000													5	110					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356218	141356218	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141356218G>A	uc002tvj.1	-	42	8148	c.7176C>T	c.(7174-7176)taC>taT	p.Y2392Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2392					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGATCCATCGTATTCACACC	0.353000										TSP Lung(27;0.18)			4	26					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719433	40719433	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40719433C>T	uc002ona.3	+	8	2135	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	616					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGAGTTCGCGGAGGCAGAG	0.711000													10	23					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5691016	5691016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:5691016G>A	uc001iig.2	-	3	478	c.434C>T	c.(433-435)gCg>gTg	p.A145V	ASB13_uc001iih.2_Non-coding_Transcript|ASB13_uc001iii.2_Non-coding_Transcript|ASB13_uc009xic.2_Missense_Mutation_p.A145V	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA.	145					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCAATCGTGCGCTTCCAGATT	0.537000													44	105					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278577	44278577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44278577C>T	uc002oxl.3	-	2	846	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	150					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGGACAGCAGCGCTTCCCCTT	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080212	23080212	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23080212G>A	uc002dll.3	-	15	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	USP31_uc002dlk.3_Missense_Mutation_p.R344C|USP31_uc010vca.2_Missense_Mutation_p.R375C|USP31_uc010bxm.3_Missense_Mutation_p.R360C	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1072	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCGGGAGCGGGAGGGCTTT	0.557000													30	90					0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19653128	19653128	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:19653128G>T	uc001ref.2	+	4	1298	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	AEBP2_uc001ree.2_Missense_Mutation_p.K424N|AEBP2_uc001reg.1_Missense_Mutation_p.K195N	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	424	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTTTAGGGAAGGGACACAGTG	0.328000													3	5					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994350	160994350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:160994350C>T	uc002ubh.2	-	9	1270	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	ITGB6_uc010fou.2_Missense_Mutation_p.V419M|ITGB6_uc010zcq.1_Missense_Mutation_p.V377M|ITGB6_uc010fov.1_Missense_Mutation_p.V419M	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	419					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCACAGTCACGCTGAAGGAA	0.478000													17	43					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001706	145001706	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145001706G>A	uc003zaf.1	-	26	4209	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLEC_uc003zab.1_Missense_Mutation_p.R1210C|PLEC_uc003zac.1_Missense_Mutation_p.R1214C|PLEC_uc003zad.2_Missense_Mutation_p.R1210C|PLEC_uc003zae.1_Missense_Mutation_p.R1178C|PLEC_uc003zag.1_Missense_Mutation_p.R1188C|PLEC_uc003zah.2_Missense_Mutation_p.R1196C|PLEC_uc003zaj.2_Missense_Mutation_p.R1237C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1347	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTAGTAACGCAGCTGGCGG	0.721000													8	25					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45448007	45448007	+	Silent	SNP	G	G	A	rs148179597		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:45448007G>A	uc001zus.1	+	28	3928	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	DUOX1_uc001zut.1_Silent_p.T1194T|DUOX1_uc010bee.1_Silent_p.T574T	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1194	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCCTCACGGGGGTTGTGC	0.577000													4	144					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113875851	113875851	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113875851G>A	uc001tvi.3	+	8	1164	c.957G>A	c.(955-957)ctG>ctA	p.L319L	SDSL_uc009zwh.3_Silent_p.L319L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	319					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCCGAGAGCTGCAGGCTTTGA	0.622000													5	233					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18088302	18088302	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18088302C>T	uc010cpw.3	+	0	1436	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	BC038464_uc002gsn.2_5'Flank	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	Homo sapiens alkB, alkylation repair homolog 5 (E. coli) (ALKBH5), mRNA.	249						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCTGCCGGTGCGCAGGGGAAG	0.637000													48	118					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516082	195516082	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195516082G>A	uc021xjp.1	-	1	2525	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.P672L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	795					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAGGCCGGTTCGCTGGT	0.612000													28	90					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137802682G>A	uc003ldb.1	+	1	814	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	182					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652000													37	236					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900303	41900303	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41900303C>T	uc003orl.3	+	6	1509	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	391					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592000													44	106					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678734	149678734	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:149678734G>A	uc003exn.4	+	10	1773	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RNF13_uc003exp.4_Missense_Mutation_p.R330H|RNF13_uc010hvh.3_Missense_Mutation_p.R211H	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	330					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGGAATCCCGCTCACATCAG	0.413000													21	48					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159170689G>A	uc001ftl.2	+	8	1353	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	CADM3_uc001ftk.2_Missense_Mutation_p.D426N|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	392					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R391R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612000													18	79					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482350	102482350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102482350G>A	uc001yks.2	+	35	7564	c.7400G>A	c.(7399-7401)cGc>cAc	p.R2467H	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2467					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGGCCTGCCGCAACGTGGCG	0.617000													7	18					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848693	215848693	+	Missense_Mutation	SNP	C	C	T	rs147304271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215848693C>T	uc001hku.1	-	62	12947	c.12560G>A	c.(12559-12561)cGc>cAc	p.R4187H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4187	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTCATAGCGAATTATTTT	0.468000										HNSCC(13;0.011)			4	112					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122078450	122078450	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:122078450G>A	uc022akp.1	-	15	2831	c.2409C>T	c.(2407-2409)ctC>ctT	p.L803L	CADPS2_uc003vkg.4_Silent_p.L504L|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.L804L|CADPS2_uc022akr.1_Silent_p.L807L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	807	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453000													13	25					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91261842	91261842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:91261842G>A	uc003pnz.1	-	7	1098	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	MAP3K7_uc003pob.1_Missense_Mutation_p.R265C|MAP3K7_uc003poa.1_Missense_Mutation_p.R265C|MAP3K7_uc003poc.1_Missense_Mutation_p.R265C	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	265	Protein kinase.				I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCAACAACGAGTCATCAGG	0.428000													19	53					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099097	184099097	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184099097G>A	uc003fov.3	+	2	573	c.327G>A	c.(325-327)ccG>ccA	p.P109P	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Silent_p.P109P|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	109	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAACCCCGGCCTGTGGGC	0.687000													3	23					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416490	124416490	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124416490C>A	uc001uft.4	+	74	12802	c.12777C>A	c.(12775-12777)gcC>gcA	p.A4259A	DNAH10_uc001ufu.4_Silent_p.A172A	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4259					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTAAATAGGCCTTGGCTGGAG	0.483000													6	81					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666341	117666341	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117666341T>C	uc004bji.2	-	3	867	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	192					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGCAAGAATTGAGAGAGATT	0.428000													33	101					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32059348	32059348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32059348C>T	uc003jhl.3	+	12	2592	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PDZD2_uc003jhm.3_Missense_Mutation_p.P735L|PDZD2_uc011cnx.1_Missense_Mutation_p.P561L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	735	PDZ 4.				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						CTCACAGAGCCAAGAGTTGGA	0.408000													5	20					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102125434	102125434	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:102125434C>T	uc001tir.3	-	6	603	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SYCP3_uc001tiq.3_Missense_Mutation_p.R155Q|SYCP3_uc001tis.3_Missense_Mutation_p.R155Q	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	155	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTGTTGCTGTCGAAACATATT	0.249000													3	18					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31369195	31369195	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31369195T>C	uc002wyc.3	+	2	500	c.179T>C	c.(178-180)gTg>gCg	p.V60A	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.V60A|DNMT3B_uc002wye.3_Missense_Mutation_p.V60A|DNMT3B_uc010ztz.2_Missense_Mutation_p.V60A|DNMT3B_uc010zua.2_Missense_Mutation_p.V60A|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.V72A	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	60	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAGGGAGGTGTCCAGTCTG	0.567000													4	58					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390555	61390555	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:61390555G>A	uc002ljk.4	+	8	1269	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	SERPINB11_uc010xes.2_Silent_p.A192A|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.A253A|SERPINB11_uc010dqe.3_Silent_p.A166A|SERPINB11_uc010dqf.3_Silent_p.A165A	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	367					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A367A(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGTTCAAGGCGAACCACCCCT	0.522000													27	80					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310270	4310270	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4310270G>A	uc002lzy.2	+	5	499	c.346_splice	c.e5-1	p.A116_splice	FSD1_uc010xie.2_Splice_Site_p.A103_splice|FSD1_uc010xif.2_Splice_Site_p.G99_splice|FSD1_uc002maa.2_5'Flank	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	116	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTCTAGGCTGCCAAGCA	0.527000													25	293					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119900063	119900063	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:119900063A>G	uc011bjf.2	-	6	1222	c.842T>C	c.(841-843)tTg>tCg	p.L281S	GPR156_uc011bjg.2_Missense_Mutation_p.L277S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	281						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGAATGCAAGTATCTGGT	0.488000													9	107					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155595716	155595716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:155595716C>T	uc003wmk.1	-	2	1418	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Missense_Mutation_p.A336T	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	423					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCCGGAGCGTCGGCAGCA	0.756000													8	19					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46836915	46836915	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:46836915G>A	uc002eek.1	-	3	427	c.414C>T	c.(412-414)gtC>gtT	p.V138V		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.	138										large_intestine(4)|urinary_tract(1)	5						CTGCCAAGGCGACTGAAAACA	0.328000													8	32					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101370	27101370	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27101370G>A	uc001bmv.1	+	17	5025	c.4652G>A	c.(4651-4653)cGc>cAc	p.R1551H	ARID1A_uc001bmt.1_Missense_Mutation_p.R1550H|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.R1168H|ARID1A_uc001bmx.1_Missense_Mutation_p.R397H|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1551					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCACACGCCAGCCCCCA	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	61					0	0	1	0	0
MRPS18B	28973	broad.mit.edu	37	6	30593450	30593450	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30593450G>A	uc003nqo.2	+	6	810	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	MRPS18B_uc011dml.1_3'UTR|ATAT1_uc003nqr.4_5'Flank|ATAT1_uc003nqs.4_5'Flank|ATAT1_uc003rdd.3_5'Flank|ATAT1_uc003rdc.3_5'Flank|ATAT1_uc011dmm.2_5'Flank|ATAT1_uc003nqv.3_5'Flank	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA.	218					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTCGCCGGCTTTACCAG	0.612000													6	178					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:61510982G>A	uc002ydr.2	-	15	6638	c.6326C>T	c.(6325-6327)gCg>gTg	p.A2109V	DIDO1_uc002yds.2_Missense_Mutation_p.A2109V	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			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)					GTCCTCGGACGCCCGGCCCTG	0.677000													89	225					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491788	30491788	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30491788G>A	uc003tav.3	-	5	1768	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	415	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGTGCAGTCGGGCAGCTGTG	0.602000													8	110					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767772	12767772	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12767772C>T	uc002mub.2	-	11	1594	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	MAN2B1_uc010dyv.1_Silent_p.T505T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	506					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGCGCCGCCGTCTGGCTGA	0.562000													8	16					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:110636575C>T	uc010kdu.1	-	2	527	c.527G>A	c.(526-528)cGc>cAc	p.R176H	METTL24_uc003pub.2_Intron	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	176						extracellular region											CTGCTTGTTGCGGATTTGATG	0.458000													6	133					0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	9	99961509	99961509	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:99961509G>A	uc004axd.2	-	0	344	c.285C>T	c.(283-285)taC>taT	p.Y95Y	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										AAGGTTTCTCGTAATTGTGGA	0.383000													16	129					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241401916C>T	uc002vyw.4	+	2	855	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	212					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCGCCTGCGGGCCACCCG	0.711000													12	26					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183511408	183511408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183511408A>G	uc001gqg.3	+	13	1863	c.1613A>G	c.(1612-1614)gAc>gGc	p.D538G	SMG7_uc010pob.2_Missense_Mutation_p.D567G|SMG7_uc021pga.1_Missense_Mutation_p.D496G|SMG7_uc001gqf.3_Missense_Mutation_p.D538G|SMG7_uc001gqh.3_Missense_Mutation_p.D538G|SMG7_uc010poc.2_Missense_Mutation_p.D496G	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	538					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAACTGTGACACAGGAGAG	0.453000													56	122					0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180811	43180811	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:43180811A>T	uc001uyu.2	+	4	860	c.711A>T	c.(709-711)caA>caT	p.Q237H	TNFSF11_uc001uyt.2_Missense_Mutation_p.Q164H	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	237					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AGTATCTTCAACTAATGGTGT	0.398000													43	95					0	0	1	0	0
C14orf180	400258	broad.mit.edu	37	14	105054176	105054176	+	Missense_Mutation	SNP	C	C	T	rs139748841	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105054176C>T	uc001yow.1	+	2	503	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	C14orf180_uc010tyh.1_Missense_Mutation_p.R68C|C14orf180_uc010awy.1_Missense_Mutation_p.R68C	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	Homo sapiens chromosome 14 open reading frame 180 (C14orf180), mRNA.	68						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GACCTCGAGGCGCGTGTGGTT	0.682000													4	13					0	0	1	0	0
C19orf63	284361	broad.mit.edu	37	19	50984001	50984001	+	Missense_Mutation	SNP	C	C	T	rs143536282		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50984001C>T	uc002psl.3	+	4	632	c.566C>T	c.(565-567)cCg>cTg	p.P189L	C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Missense_Mutation_p.P189L	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	189						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		CAGCTGCAGCCGCCCACCACA	0.716000													3	13					0	0	1	0	0
IL28A	282616	broad.mit.edu	37	19	39759380	39759380	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39759380C>T	uc002oku.1	+	1	126	c.74C>T	c.(73-75)gCa>gTa	p.A25V		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	25					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGACTGGAGCAGTTCCTGTC	0.617000													5	45					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824936	124824936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124824936G>A	uc021rga.1	-	35	5530	c.5413C>T	c.(5413-5415)Cga>Tga	p.R1805*	NCOR2_uc021rgb.1_Nonsense_Mutation_p.R1789*|NCOR2_uc010tbb.2_Nonsense_Mutation_p.R1798*|NCOR2_uc010tbc.2_Nonsense_Mutation_p.R1788*|NCOR2_uc021rgc.1_Nonsense_Mutation_p.R1788*|NCOR2_uc010tba.2_Nonsense_Mutation_p.R1806*|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1806					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGGTCTCGCTCCCGCTCG	0.622000													16	44					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114610974	114610974	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:114610974T>C	uc003kqz.2	-	5	1075	c.857A>G	c.(856-858)gAa>gGa	p.E286G	CCDC112_uc003kqy.2_Missense_Mutation_p.E203G|CCDC112_uc003kra.2_Missense_Mutation_p.E286G	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	203										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGTTGAACTTCATCTTGTGT	0.323000													9	58					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408385	2408385	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2408385G>A	uc010xgx.2	+	6	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	TMPRSS9_uc002lvv.1_Missense_Mutation_p.V292M	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	258	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGTGGCCTACGTGGGTGCGAC	0.667000													23	78					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473606	31473606	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:31473606G>T	uc010vfn.2	+	4	1147	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	ARMC5_uc010vfo.2_Silent_p.L278L|ARMC5_uc002ecc.3_Silent_p.L246L|ARMC5_uc002eca.4_Silent_p.L246L|ARMC5_uc002ecb.2_Silent_p.L246L|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	246							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGAGCTCCTGGCCACTGCCC	0.672000													17	34					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222365	142222365	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:142222365G>A	uc003ywd.1	-	6	2387	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	SLC45A4_uc003ywc.1_Silent_p.S693S|SLC45A4_uc010meq.1_Silent_p.S691S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	744					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGCTTTTCGCTGTTCCCAC	0.622000													10	22					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711423	155711423	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:155711423G>A	uc002tyv.1	+	2	1299	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	368					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S368*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTCATGTCGTCCCCTTTAA	0.408000													40	111					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399182	127399182	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127399182C>T	uc003ejt.3	+	11	1389	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	ABTB1_uc003ejr.3_Missense_Mutation_p.T292M|ABTB1_uc003ejs.3_Missense_Mutation_p.T409M|ABTB1_uc003eju.3_Missense_Mutation_p.T292M|ABTB1_uc010hsm.3_Missense_Mutation_p.T161M	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	434						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGGCAGGAGACGGACTCTATC	0.672000													3	24					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	rs144824501	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:110576705G>A	uc003ynf.3	+	6	794	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_uc003yng.3_Missense_Mutation_p.E187K	NM_198120	NP_936056	O00559	RCAS1_HUMAN	Homo sapiens estrogen receptor binding site associated, antigen, 9 (EBAG9), transcript variant 2, mRNA.	187					apoptosis|regulation of cell growth	Golgi membrane|focal adhesion|integral to membrane|soluble fraction	apoptotic protease activator activity	p.E187K(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333000													28	72					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8678365	8678365	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:8678365C>T	uc002wnb.3	+	10	1105	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	PLCB1_uc010zrb.1_Missense_Mutation_p.R267W|PLCB1_uc002wna.3_Missense_Mutation_p.R368W|PLCB1_uc002wnc.1_Missense_Mutation_p.R267W	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	368	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAGGGACGGACTGCAGA	0.488000													46	98					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108882	58108882	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:58108882C>T	uc003djj.2	+	20	3354	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	FLNB_uc010hne.2_Silent_p.I1063I|FLNB_uc003djk.2_Silent_p.I1063I|FLNB_uc010hnf.2_Silent_p.I1063I|FLNB_uc003djl.2_Silent_p.I894I|FLNB_uc003djm.2_Silent_p.I894I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1063					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			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)		AGTTCACCATCGATACCAAAG	0.567000													45	133					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380399	147380399	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:147380399G>A	uc021ovm.1	+	0	317	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA8_uc001epu.2_Missense_Mutation_p.R106H	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	106					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGAGAAGCGCAAAAGCCGC	0.652000													33	70					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232315	20232315	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:20232315G>A	uc002wru.3	+	19	2350	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	C20orf26_uc010zse.2_Missense_Mutation_p.G726S|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Missense_Mutation_p.G102S	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	746								p.T745T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAATGACCGGCATAGACCG	0.532000													40	94					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43099822	43099822	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43099822G>A	uc011dve.1	+	5	947	c.905G>A	c.(904-906)cGc>cAc	p.R302H	PTK7_uc003oub.1_Missense_Mutation_p.R294H|PTK7_uc003ouc.1_Missense_Mutation_p.R294H|PTK7_uc003oud.1_Missense_Mutation_p.R294H|PTK7_uc003oue.1_Missense_Mutation_p.R294H|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.R294H	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	294	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTCCGGCCACGCAATGCAGGG	0.622000													14	48					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:206757996G>A	uc001hed.3	+	3	1025	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	RASSF5_uc001hec.1_Missense_Mutation_p.R323Q|RASSF5_uc001hee.3_Missense_Mutation_p.R323Q|RASSF5_uc001hef.3_Missense_Mutation_p.R170Q|RASSF5_uc001heg.1_Missense_Mutation_p.R96Q|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	323	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537000													16	57					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30518157C>T	uc002dyi.4	+	20	2664	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	ITGAL_uc002dyj.4_Missense_Mutation_p.R746C|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	830					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.R830H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTCTCCTTCCGCAAGGTGGA	0.607000													64	188					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509124	7509124	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7509124G>A	uc002mgi.3	+	3	1084	c.831G>A	c.(829-831)acG>acA	p.T277T	ARHGEF18_uc010xjm.1_Silent_p.T119T|ARHGEF18_uc002mgh.3_Silent_p.T119T|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	277	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ACGTGCGGACGCTCAAGATCA	0.637000													25	39					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95519329	95519329	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:95519329C>T	uc001pfn.2	-	3	629	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	106										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTGTTTGCACTGTTCACA	0.373000													30	90					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049709	157049709	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:157049709T>C	uc010lqs.3	+	21	3364	c.3052T>C	c.(3052-3054)Tgc>Cgc	p.C1018R	UBE3C_uc003wni.4_Missense_Mutation_p.C381R	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	1018	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTAACAAGCTGCTCTCGACC	0.433000													31	82					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741353	156741353	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156741353T>C	uc021ygm.1	+	12	1246	c.1108_splice	c.e12-1	p.V370_splice	CYFIP2_uc011ddn.2_Splice_Site_p.V345_splice|CYFIP2_uc011ddo.2_Splice_Site_p.V175_splice|CYFIP2_uc021ygn.1_Splice_Site_p.V370_splice|CYFIP2_uc021ygo.1_Splice_Site_p.V370_splice|CYFIP2_uc003lwt.3_Splice_Site_p.V249_splice|CYFIP2_uc011ddp.2_Splice_Site_p.V105_splice	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	371					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532000													6	71					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462084	5462084	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:5462084G>A	uc003jdm.4	+	12	2859	c.2637G>A	c.(2635-2637)agG>agA	p.R879R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	879										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTTGAGGCCACATAGGG	0.418000													29	91					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205498652	205498652	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205498652G>A	uc001hcr.3	+	12	1534	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	CDK18_uc001hcp.3_Silent_p.L394L|CDK18_uc001hcq.3_Silent_p.L394L|CDK18_uc010prj.2_Silent_p.L305L|CDK18_uc001hcs.3_Silent_p.L305L|CDK18_uc009xbm.1_Silent_p.L319L	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	392							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.L424L(2)|p.L394L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTGCAGGTTGGATACGGATG	0.697000											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33177832	33177832	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33177832G>A	uc003odk.3	+	3	574	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RING1_uc011dqx.1_Missense_Mutation_p.R127H|RING1_uc003odl.3_Missense_Mutation_p.R98H	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	127	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGCTTATCCGCCTGAGCCGC	0.577000													16	65					0	0	1	0	0
SAP30L	79685	broad.mit.edu	37	5	153830731	153830731	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:153830731C>T	uc003lvk.3	+	1	930	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SAP30L_uc003lvm.4_Non-coding_Transcript|SAP30L_uc011ddc.2_Intron|SAP30L_uc011ddd.2_Intron|SAP30L_uc003lvl.3_Non-coding_Transcript	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Homo sapiens SAP30-like (SAP30L), transcript variant 1, mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACAAGTGACGATGGCGGAG	0.423000													12	34					0	0	1	0	0
TAX1BP3	30851	broad.mit.edu	37	17	3567066	3567066	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:3567066G>A	uc002fwc.3	-	3	504	c.351C>T	c.(349-351)gcC>gcT	p.A117A	TAX1BP3_uc021tnt.1_Silent_p.A91A|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA.	117					Rho protein signal transduction|Wnt receptor signaling pathway|activation of Cdc42 GTPase activity|negative regulation of Wnt receptor signaling pathway|negative regulation of protein localization at cell surface	cytoplasm|nucleus	protein C-terminus binding	p.A117A(2)		endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		ACTGCTGCACGGCCTTCTGCA	0.632000													11	21					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220750	67220750	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67220750C>A	uc002erx.1	-	6	1437	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Missense_Mutation_p.G50V|EXOC3L1_uc010vje.1_Intron|EXOC3L1_uc002ery.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	399					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTACCTCCCCATCCAGTGC	0.607000													11	76					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36229230	36229230	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:36229230C>T	uc021usv.1	+	36	7920	c.7920C>T	c.(7918-7920)gaC>gaT	p.D2640D	MLL2_uc021usu.1_Silent_p.D1454D	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5462					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S2640fs*32(2)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATGTAGTGGACGCCACGATGC	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			11	27					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131208896	131208896	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:131208896C>T	uc011blp.2	-	5	773	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	MRPL3_uc011blo.2_Missense_Mutation_p.R61Q|MRPL3_uc003eoh.3_Missense_Mutation_p.R166Q	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	166					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363000													9	21					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13778282	13778282	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:13778282G>A	uc004cvp.4	+	15	2062	c.1703G>A	c.(1702-1704)cGt>cAt	p.R568H	OFD1_uc004cvr.4_Missense_Mutation_p.R135H|OFD1_uc011mil.2_Missense_Mutation_p.R135H|OFD1_uc004cvq.4_Missense_Mutation_p.R428H|OFD1_uc010nen.3_Missense_Mutation_p.R567H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.R527H|OFD1_uc004cvv.4_Missense_Mutation_p.R527H	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	568					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.D567Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGATCGATCGTTCTGTCAAT	0.418000													41	35					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484040	152484040	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152484040G>A	uc021vrb.1	-	63	9440	c.9411C>T	c.(9409-9411)agC>agT	p.S3137S	NEB_uc002txu.3_Silent_p.S3380S|NEB_uc021vrc.1_Silent_p.S3380S|NEB_uc010fnx.3_Silent_p.S3125S|NEB_uc021vrd.1_Silent_p.S3137S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3137					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCACATCGCTCTGGAGGT	0.468000													9	227					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43443992	43443992	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43443992C>T	uc001zqr.3	+	7	1150	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	TMEM62_uc010bda.3_Missense_Mutation_p.R161W	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	291						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTTTAGGTACCGGATTTTTGC	0.353000													9	107					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349173	103349173	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:103349173C>A	uc022cbz.1	-	0	768	c.768G>T	c.(766-768)caG>caT	p.Q256H	SLC25A53_uc004elu.3_Missense_Mutation_p.Q256H	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	256					transport	integral to membrane|mitochondrial inner membrane											TCCATACATCCTGGGCAGAGG	0.542000													21	20					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75915275	75915275	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:75915275C>T	uc001vjl.1	-	6	1944	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	TBC1D4_uc010aer.2_Missense_Mutation_p.G533R|TBC1D4_uc010aes.2_Missense_Mutation_p.G533R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	533						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGCCTTCCCCGATGTGCACG	0.413000													16	38					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40034431	40034431	+	Silent	SNP	G	G	A	rs35022178	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40034431G>A	uc002hyg.3	-	21	2575	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACLY_uc002hyh.3_Silent_p.L794L|ACLY_uc002hyi.3_Silent_p.L858L|ACLY_uc010wfx.2_Silent_p.L848L|ACLY_uc010wfy.2_Silent_p.L533L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	804					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATTGGCCACGAGATCTTCGT	0.502000													9	36					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22255282	22255282	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22255282T>A	uc001uog.2	+	1	1216	c.379T>A	c.(379-381)Tca>Aca	p.S127T		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	127					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			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)		GCTGTATGGATCAGTAAGTAC	0.468000													12	39					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913367	6913367	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6913367C>T	uc010rau.2	-	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAACATAGCGATCATAGGA	0.488000													30	74					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572369	42572369	+	Silent	SNP	C	C	T	rs142317327		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:42572369C>T	uc003clf.2	+	6	859	c.735C>T	c.(733-735)gcC>gcT	p.A245A	VIPR1_uc021wwl.1_Silent_p.A204A|VIPR1_uc011azn.2_Silent_p.A218A|VIPR1_uc011azl.1_Silent_p.A197A|VIPR1_uc011azm.1_Missense_Mutation_p.P42L|VIPR1_uc003clg.2_5'Flank	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	245					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTGCTTGCCGTCTCCTTCT	0.562000													9	105					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32135664	32135664	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32135664G>A	uc001rks.3	+	3	2189	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	592										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TCACAGGCACGTAAGACTCAG	0.353000													11	34					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32263257	32263257	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32263257T>G	uc003jhq.3	-	6	845	c.675A>C	c.(673-675)aaA>aaC	p.K225N	MTMR12_uc010iuk.3_Missense_Mutation_p.K225N|MTMR12_uc010iul.3_Missense_Mutation_p.K225N	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	225	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACTCACTGCTTTGTACTTCA	0.433000													32	79					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915745	31915745	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31915745G>A	uc003nyj.4	+	5	1062	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	CFB_uc011dor.2_Missense_Mutation_p.V764I|CFB_uc003nyi.2_Missense_Mutation_p.V262I	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	262					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCGGAAGATCGTCCTGGACCC	0.542000													30	71					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49998227	49998227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49998227G>A	uc001ruo.3	-	1	364	c.191C>T	c.(190-192)gCc>gTc	p.A64V	FAM186B_uc010smk.2_5'UTR	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	64						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGAGATTTGGCATTTTCTTT	0.403000													8	71					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328900	6328900	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:6328900G>A	uc003zjw.3	+	0	552	c.305G>A	c.(304-306)gGc>gAc	p.G102D	TPD52L3_uc003zjv.3_Missense_Mutation_p.G102D|TPD52L3_uc003zjx.2_Missense_Mutation_p.G102D	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	102							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCACCATGGGCACTCTCATC	0.512000													20	107					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943456	98943456	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:98943456A>G	uc003yic.3	+	2	649	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	MATN2_uc003yib.1_Missense_Mutation_p.I140V|MATN2_uc010mbh.1_Missense_Mutation_p.I140V|MATN2_uc003yid.3_Missense_Mutation_p.I140V|MATN2_uc003yie.1_Missense_Mutation_p.I140V|MATN2_uc010mbi.1_Missense_Mutation_p.I14V	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	140	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGCTGGCCATCCAGTATGC	0.582000													21	30					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131325195	131325195	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:131325195C>T	uc003kvx.2	-	4	566	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.D118N|ACSL6_uc003kvy.2_Missense_Mutation_p.D153N|ACSL6_uc003kvz.2_Missense_Mutation_p.D93N|ACSL6_uc021ydh.1_Missense_Mutation_p.D93N|ACSL6_uc010jdo.2_Missense_Mutation_p.D128N|ACSL6_uc003kwa.2_Missense_Mutation_p.D139N|ACSL6_uc003kwc.1_Missense_Mutation_p.D93N|ACSL6_uc003kwd.1_Missense_Mutation_p.D128N|ACSL6_uc010jdn.2_Missense_Mutation_p.D128N|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	128					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCTGTCGGCCACCTGC	0.458000													6	100					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176983939	176983939	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:176983939G>A	uc002ukj.3	+	1	1073	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	335						nucleus	sequence-specific DNA binding	p.A335A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGAACTGACCGCCAACCTCAC	0.577000													17	44					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153587696G>A	uc004fkk.2	-	24	4470	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1407					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	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			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)					AGCAGCTGCCGTCCTTGTTAT	0.632000													5	107					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122359385	122359385	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122359385C>T	uc009zxk.3	+	1	333	c.174C>T	c.(172-174)ggC>ggT	p.G58G	WDR66_uc021rfh.1_Silent_p.G58G	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	58	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463000													10	21					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34945826	34945826	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34945826G>A	uc002hnb.3	+	13	2395	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	DHRS11_uc002hnd.3_5'Flank	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	693					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.T692S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTTGACAACGGCTGGAGCAA	0.383000													32	74					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52903829G>A	uc010ugf.2	-	2	502	c.368C>T	c.(367-369)gCg>gTg	p.A123V	FAM214A_uc002acg.4_Missense_Mutation_p.A116V|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.A28V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	116																	TTGCTTAATCGCAGGATCATT	0.413000													28	68					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763645	56763645	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:56763645G>T	uc001xch.3	+	5	1310	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	342					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CAGGACTGTGGGCCCCTATGT	0.592000													42	87					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10786119	10786119	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10786119C>T	uc001mja.3	+	11	1587	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	480					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCATTGGACCGTGCAAAAGC	0.373000													7	30					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723862	128723862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:128723862G>A	uc004euq.3	+	22	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_uc004eur.3_Missense_Mutation_p.R829H|OCRL_uc010nrb.3_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	837	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433000													26	30					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:221057685G>A	uc001hmv.4	+	3	1563	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	369	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667000													14	33					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503688	10503688	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503688G>A	uc001min.1	+	3	877	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	AMPD3_uc010rbz.1_Missense_Mutation_p.A10T|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.A169T|AMPD3_uc001mio.1_Missense_Mutation_p.A169T|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A176T|AMPD3_uc009yfy.2_Missense_Mutation_p.A169T	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	169					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCGGCTCGCCTACCACCG	0.617000													46	121					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109336253	109336253	+	Missense_Mutation	SNP	G	G	A	rs147446724		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109336253G>A	uc001dvy.3	+	11	1088	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	338					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCCCATTTCCGAAAACAGATT	0.338000													19	42					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907568	43907568	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:43907568C>T	uc010dap.3	+	6	895	c.630C>T	c.(628-630)caC>caT	p.H210H	CRHR1_uc010wjx.2_Silent_p.H6H|CRHR1_uc002ijp.3_Silent_p.H80H|CRHR1_uc002ijm.3_Silent_p.H181H|CRHR1_uc002ijn.3_Silent_p.H141H|CRHR1_uc010dar.3_Silent_p.H181H|CRHR1_uc010dao.3_Silent_p.H80H|CRHR1_uc010daq.3_Silent_p.H6H|CRHR1_uc021tyu.1_Silent_p.H6H|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	210					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCGAGGTCCACCAGAGCAACG	0.647000													6	57					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267116	1267116	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1267116G>A	uc001lta.3	+	30	9065	c.9006G>A	c.(9004-9006)acG>acA	p.T3002T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3002	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACCGCAACCA	0.677000													68	195					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2129906	2129906	+	Missense_Mutation	SNP	G	G	A	rs144575256		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:2129906G>A	uc003ger.2	-	16	1928	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	POLN_uc010icg.1_Missense_Mutation_p.P87L|POLN_uc010ich.1_Missense_Mutation_p.P171L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	639					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGAAGTTCCGGATCTCCAGA	0.363000								DNA polymerases (catalytic subunits)					5	20					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2290114	2290114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2290114G>A	uc002cpr.3	-	6	810	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ECI1_uc002cps.3_Nonsense_Mutation_p.R242*	NM_001919	NP_001910	P42126	ECI1_HUMAN	Homo sapiens enoyl-CoA delta isomerase 1 (ECI1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	259					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						GTGGCCTTTCGCATCATGGCC	0.557000													14	26					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198231	58198231	+	Silent	SNP	C	C	T	rs150173912	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58198231C>T	uc002qpw.4	+	2	763	c.540C>T	c.(538-540)caC>caT	p.H180H	ZNF551_uc002qpv.4_Silent_p.H123H|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTCCAACACGAAGCCACTC	0.498000													14	73					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64698334	64698334	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:64698334T>C	uc001dbn.1	+	7	839	c.595_splice	c.e7+2	p.L199_splice		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	199							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GAACTCCATGTAAGGTGAACT	0.338000													7	26					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625331	140625331	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140625331G>A	uc003lje.3	+	0	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGCCGAGCGGGGAGCCCGG	0.552000													36	96					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1652754C>T	uc002qxa.3	-	16	2862	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	933					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCAGGCCGCGGTGGCTGGC	0.692000													11	34					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124395	65124395	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65124395G>A	uc021qlj.1	+	0	1116	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	TIGD3_uc001odo.4_Silent_p.P372P	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	372					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.P371T(1)|p.P372Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAACGCCCCCGTCCTCGCACA	0.632000													38	91					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874275	155874275	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155874275G>A	uc001fmh.1	-	4	443	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RIT1_uc010pgr.1_Missense_Mutation_p.R50W	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	86					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TACTGGTCCCGCATGGCTGTA	0.413000													4	40					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416696	187416696	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:187416696G>A	uc003fro.1	-	1	697	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	90					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TTGAAGACGCGCATGCGCACC	0.647000													3	34					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633591	45633591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:45633591C>T	uc002xsm.3	+	3	540	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	EYA2_uc010ghp.3_Missense_Mutation_p.R56C|EYA2_uc002xsq.3_Missense_Mutation_p.R56C	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	56					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATCTTGCCCACGTGTCCTCCC	0.562000													18	86					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88898438	88898438	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88898438C>T	uc010cid.3	-	9	1229	c.988G>A	c.(988-990)Gca>Aca	p.A330T	GALNS_uc002fly.4_Missense_Mutation_p.A324T|GALNS_uc002flz.4_Missense_Mutation_p.A7T			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	324						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding	p.V330V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGCCACCATGCGAGGGCAGGC	0.672000													12	45					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73482398	73482398	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73482398G>A	uc010wsa.2	+	3	522	c.330G>A	c.(328-330)tcG>tcA	p.S110S	KIAA0195_uc002jnz.4_Silent_p.S100S	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	100					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAATGCCTCGGCCTTGTTCC	0.657000													39	152					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76756938	76756938	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:76756938C>T	uc002lmt.3	+	2	3519	c.3519C>T	c.(3517-3519)ggC>ggT	p.G1173G	SALL3_uc010dra.3_Silent_p.G708G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGACGCGGCCGCCGCCTGT	0.612000													11	37					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171232	68171232	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:68171232G>A	uc010dfg.3	+	1	453	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	KCNJ2_uc002jir.3_Missense_Mutation_p.G18S|KCNJ2_uc021ucj.1_Missense_Mutation_p.G18S	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	18					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.D17D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522000													19	51					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467555	6467555	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:6467555C>T	uc002mfe.3	-	22	2458	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	DENND1C_uc002mfb.3_Missense_Mutation_p.R339Q|DENND1C_uc002mfc.3_Missense_Mutation_p.R339Q|DENND1C_uc002mfd.3_Missense_Mutation_p.R339Q|DENND1C_uc010xje.2_Missense_Mutation_p.R745Q	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	789						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACTCTGGGCCGGCTGCTGGG	0.572000													19	51					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4312619	4312619	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312619C>T	uc010uxg.2	-	1	427	c.173G>A	c.(172-174)cGg>cAg	p.R58Q		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	58					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CATGCGTCTCCGCTCGTTGCT	0.622000													30	110					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294936	184294936	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184294936G>A	uc003foz.3	+	4	1756	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	440	Fibronectin type-III 1.		R -> C (in dbSNP:rs56029711).			integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCCGCCTCGTTATGCGGCC	0.632000													16	28					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712516	140712516	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140712516C>T	uc003lji.2	+	0	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGC5_uc011dan.2_Silent_p.H755H	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.607000													64	157					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7005025	7005025	+	Missense_Mutation	SNP	C	C	T	rs144253358		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7005025C>T	uc002gep.3	-	8	1072	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	ASGR2_uc002gen.1_Missense_Mutation_p.G250R|ASGR2_uc002geo.2_Missense_Mutation_p.G264R|ASGR2_uc002geq.3_Missense_Mutation_p.G245R|ASGR2_uc002ger.3_Missense_Mutation_p.G269R	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	269	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCTCGTGCCCGTGCCAATTA	0.567000													17	37					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72197283	72197283	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72197283C>T	uc002atl.4	-	19	3223	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	MYO9A_uc010biq.3_Missense_Mutation_p.R537H|MYO9A_uc002atn.1_Missense_Mutation_p.R898H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	917	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCATTAGAGCGAATGCATTT	0.348000													12	36					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52667640	52667640	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52667640C>T	uc002aby.2	-	19	2682	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	MYO5A_uc002abx.3_Missense_Mutation_p.R813H|MYO5A_uc010uge.1_Missense_Mutation_p.R682H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	813	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413000													14	27					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65303495	65303495	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65303495G>A	uc001oea.1	+	10	1535	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	SCYL1_uc009yqk.3_Silent_p.A486A|SCYL1_uc001oeb.1_Silent_p.A486A|SCYL1_uc001oec.1_Silent_p.A486A|SCYL1_uc001oee.1_Silent_p.A130A	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.A486A(1)		ovary(1)|skin(1)	2						CCCGGGTTGCGGGTGTCCTGG	0.597000													31	74					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27658073	27658073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27658073G>A	uc002rko.3	+	7	1472	c.640G>A	c.(640-642)Gga>Aga	p.G214R	NRBP1_uc002rkp.3_Missense_Mutation_p.G214R|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	214	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGCACAACGGACTCATCAA	0.582000													7	72					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381892	68381892	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:68381892G>A	uc022byl.1	-	0	1190	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	PJA1_uc004dxg.3_Missense_Mutation_p.P209L|PJA1_uc004dxh.3_Missense_Mutation_p.P397L|PJA1_uc004dxi.3_Missense_Mutation_p.P342L|PJA1_uc011mpi.2_Missense_Mutation_p.P115L	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	397							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTTCCCCGGCAGAGTCTC	0.627000													17	23					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:20414280G>A	uc003zoe.2	-	4	823	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_uc011lne.1_Silent_p.S156S|MLLT3_uc011lnf.1_Silent_p.S185S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	151					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2404100	2404100	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2404100T>A	uc003slx.3	+	5	1176	c.1093T>A	c.(1093-1095)Ttc>Atc	p.F365I	EIF3B_uc003sly.3_Missense_Mutation_p.F365I|EIF3B_uc003slz.1_Missense_Mutation_p.F326I|EIF3B_uc003sma.3_Missense_Mutation_p.F93I	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	365	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGAGAGAAATTCAAGCAAAT	0.478000													6	130					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379096	54379096	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:54379096C>T	uc001sen.3	+	0	151	c.53C>T	c.(52-54)gCg>gTg	p.A18V		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	18					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCCTTGGCTGCGCCCGGCGGA	0.597000													44	130					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753465	7753465	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7753465A>T	uc002gix.3	+	2	2386	c.1549A>T	c.(1549-1551)Atc>Ttc	p.I517F	KDM6B_uc002giw.1_Missense_Mutation_p.I1215F	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1215	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CATCACAGTGATCCGGGGCCT	0.592000													9	40					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152387573	152387573	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152387573A>C	uc021vrb.1	-	115	16491	c.16462T>G	c.(16462-16464)Tac>Gac	p.Y5488D	NEB_uc002txr.3_Missense_Mutation_p.Y1954D|NEB_uc002txu.3_Missense_Mutation_p.Y7189D|NEB_uc021vrc.1_Missense_Mutation_p.Y7189D|NEB_uc010fnx.3_Missense_Mutation_p.Y5476D|NEB_uc021vrd.1_Missense_Mutation_p.Y5488D|NEB_uc002txt.4_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5488					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGGTGTAGCCTCTGGGT	0.403000													9	18					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953223	25953223	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:25953223G>A	uc010ayu.3	-	11	2581	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	825					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTTGCAACCAGCAGGCATACT	0.567000													10	74					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43623811	43623811	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:43623811C>A	uc002xnb.3	+	5	696	c.606C>A	c.(604-606)aaC>aaA	p.N202K	STK4_uc010ggx.3_Missense_Mutation_p.N202K|STK4_uc010ggy.3_Missense_Mutation_p.N147K|STK4_uc010ggw.1_Missense_Mutation_p.N202K	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	202	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.Y201H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTGGATACAACTGTGTAGCAG	0.448000													38	81					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170099968	170099968	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:170099968C>T	uc002ues.3	-	22	3708	c.3495G>A	c.(3493-3495)tcG>tcA	p.S1165S	LRP2_uc010zdf.1_Silent_p.S1028S	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1165	LDL-receptor class A 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.S1165W(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)	CACAGACAAACGATAGGTCAA	0.373000													27	98					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295123	45295123	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45295123G>A	uc010olf.2	-	8	1178	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	PTCH2_uc021omv.1_Missense_Mutation_p.A389V|PTCH2_uc010olg.2_Missense_Mutation_p.A88V	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	389					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTCAGAGAACGCATGCAGGAT	0.622000									Basal Cell Nevus syndrome				49	103					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490935	100490935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100490935G>A	uc003uxd.3	-	0	1075	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ACHE_uc003uxe.3_Nonsense_Mutation_p.R307*|ACHE_uc003uxf.3_Nonsense_Mutation_p.R307*|ACHE_uc003uxg.3_Nonsense_Mutation_p.R307*|ACHE_uc003uxh.3_Nonsense_Mutation_p.R307*|ACHE_uc003uxi.3_Nonsense_Mutation_p.R307*|ACHE_uc003uxj.1_Nonsense_Mutation_p.R426*	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	307					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGCGCTGGTCGTGTCCGAAGG	0.627000													15	26					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946968	40946968	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:40946968G>A	uc003gvn.3	-	6	1588	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.R319W|APBB2_uc003gvm.3_Missense_Mutation_p.R319W|APBB2_uc011byt.1_Missense_Mutation_p.R302W	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.R319L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGACGGGCCGTTCCCACTGA	0.527000													22	84					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:148756445C>T	uc003lqo.3	-	1	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	55					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622000													38	97					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:10480680G>A	uc003wtc.3	-	1	261	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	11					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642000													4	118					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556938	214556938	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214556938C>T	uc001hkk.2	-	12	2913	c.2260G>A	c.(2260-2262)Ggt>Agt	p.G754S	PTPN14_uc021piy.1_Missense_Mutation_p.G518S|PTPN14_uc010pty.2_Missense_Mutation_p.G655S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	754					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTTGGACCGGGGTACTCA	0.667000													5	94					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152135	73152135	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:73152135C>T	uc004aid.3	-	24	4102	c.3858G>A	c.(3856-3858)tcG>tcA	p.S1286S	TRPM3_uc004ahu.3_Silent_p.S1128S|TRPM3_uc004ahv.3_Silent_p.S1088S|TRPM3_uc004ahw.3_Silent_p.S1158S|TRPM3_uc004ahx.3_Silent_p.S1145S|TRPM3_uc004ahy.3_Silent_p.S1148S|TRPM3_uc004ahz.3_Silent_p.S1135S|TRPM3_uc004aia.3_Silent_p.S1133S|TRPM3_uc004aib.3_Silent_p.S1123S|TRPM3_uc004aic.3_Silent_p.S1286S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1311						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCAGTCTGACGAGGTCCTCG	0.612000													42	92					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573944	41573944	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41573944A>G	uc003azl.4	+	30	6624	c.6229A>G	c.(6229-6231)Aac>Gac	p.N2077D		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2077	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTTCACGCCAACCCCCAGCT	0.572000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	137					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171431771	171431771	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:171431771C>T	uc003fhs.3	-	8	1170	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	PLD1_uc003fht.3_Missense_Mutation_p.V275I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	275	PH.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCAGCAGGACGAAGGCAATG	0.358000													17	45					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223489482	223489482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:223489482G>A	uc010zlq.1	-	11	1008	c.973C>T	c.(973-975)Cga>Tga	p.R325*	FARSB_uc002vne.1_Nonsense_Mutation_p.R305*|FARSB_uc002vnf.1_Nonsense_Mutation_p.R206*	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	305	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCTCCTTTCGGTAAGCTAAT	0.328000													7	11					0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40964125	40964125	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40964125C>T	uc002onw.2	-	2	401	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_000713	NP_000704	P30043	BLVRB_HUMAN	Homo sapiens biliverdin reductase B (flavin reductase (NADPH)) (BLVRB), mRNA.	91					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	ATGTTCCGGGCGCCCTCGGAC	0.687000													4	24					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979079	119979079	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:119979079G>A	uc010inb.3	+	4	3972	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Missense_Mutation_p.R1129H	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGATGGAGACGCCAAACATGA	0.383000													15	46					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18622252C>T	uc003zne.4	+	4	638	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_uc003znb.3_Silent_p.C162C|ADAMTSL1_uc003znc.4_Silent_p.C162C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512000													6	68					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44098898	44098898	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44098898G>A	uc009yks.1	+	6	770	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_Silent_p.P121P|ACCS_uc010rfn.2_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.R209Q	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	209							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGCAACATCCGGCTGGCCTAT	0.567000													55	164					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29996668G>A	uc010bzm.2	+	12	1613	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Silent_p.E519E|TAOK2_uc021tgf.1_Silent_p.E519E|TAOK2_uc002dva.2_Silent_p.E519E|TAOK2_uc002dvc.2_Silent_p.E519E|TAOK2_uc002dvd.2_Silent_p.E346E	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	519					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672000													13	29					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	720196	720196	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:720196G>A	uc001lqt.3	+	4	547	c.300G>A	c.(298-300)tcG>tcA	p.S100S	EPS8L2_uc010qwj.1_Silent_p.S100S|EPS8L2_uc001lqu.3_Silent_p.S100S|EPS8L2_uc010qwk.2_Silent_p.S100S|EPS8L2_uc001lqv.3_Silent_p.S55S|EPS8L2_uc001lqw.3_5'Flank|EPS8L2_uc001lqx.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	100	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCAGTCGCTGCGGCTGC	0.662000													5	72					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9841702	9841702	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:9841702G>A	uc004csu.1	+	1	266	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	59	PDZ.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTGAAGAGGGCAGTAAAGCC	0.532000											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43687179G>A	uc003bdt.2	-	3	484	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_uc003bdu.2_Silent_p.D119D	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	119	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542000													4	35					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880409	42880409	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:42880409C>A	uc001chi.2	+	4	1078	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	314					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GATGGCTGTCCTCCCAGGACT	0.532000													25	95					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268328	25268328	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:25268328A>G	uc002dod.4	-	0	528	c.121T>C	c.(121-123)Tct>Cct	p.S41P	ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.S41P	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGTCTCAGAGCTATCCGAT	0.522000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	57					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962592	37962592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37962592G>A	uc003asz.4	+	1	639	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	79					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706000													18	36					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814359	106814359	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:106814359C>T	uc003ymd.3	+	7	2072	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	ZFPM2_uc011lhs.2_Silent_p.D414D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	683					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAAAGTGACCCAAATAAGA	0.453000													3	38					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085961	53085961	+	Missense_Mutation	SNP	C	C	T	rs148286783		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53085961C>T	uc010ydn.2	+	4	910	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	ZNF701_uc002pzs.2_Missense_Mutation_p.R217C|ZNF701_uc021uyw.1_Missense_Mutation_p.R283C	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATCTTTCCAACGTAATGAGAG	0.353000													24	48					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201618018	201618018	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:201618018C>T	uc021phi.1	+	0	569	c.222C>T	c.(220-222)agC>agT	p.S74S	NAV1_uc001gwu.3_Silent_p.S74S	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	74					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTGGACAGCCGTGTCCCCG	0.667000													16	54					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76521466	76521466	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:76521466G>T	uc011cbp.2	-	9	1906	c.1381C>A	c.(1381-1383)Cca>Aca	p.P461T	CDKL2_uc003hiq.3_Missense_Mutation_p.P461T	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	461					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)			ATGCCTGATGGGGAATGTCTG	0.338000													8	39					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11158106	11158106	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11158106G>A	uc001asa.3	-	1	269	c.219C>T	c.(217-219)tgC>tgT	p.C73C	EXOSC10_uc001asb.3_Silent_p.C73C|EXOSC10_uc009vmy.1_Silent_p.C73C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	73					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGTGTTTCGCAAAATGCTT	0.428000													3	26					0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48051191	48051191	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48051191T>C	uc002ipv.3	+	2	878	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	DLX4_uc002ipw.3_Missense_Mutation_p.S131P|DLX4_uc021tzu.1_3'UTR	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	203				S -> Y (in Ref. 1; AAC50942).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ACCCCTCCCCTCCCTCTGGGA	0.592000													4	105					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129818090	129818090	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129818090G>A	uc003ene.2	-	2		c.421C>T			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CGTTGGAGTCGTGTATGAGTC	0.438000													43	99					0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22472378	22472378	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22472378G>A	uc003xch.3	+	10	1318	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	KIAA1967_uc003xci.3_Missense_Mutation_p.A357T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A26T	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	357					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGAAGAGGAGGCAGTGCTGGT	0.587000													5	53					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29921408	29921408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:29921408C>T	uc003xhs.3	-	5	1200	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.R167Q	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	339						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCTACTTTATCGTCTCCTGGT	0.313000													21	41					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527616	97527616	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97527616C>T	uc002sxg.4	-	10	1849	c.1618G>A	c.(1618-1620)Ggc>Agc	p.G540S	SEMA4C_uc002sxf.4_5'UTR|SEMA4C_uc002sxe.3_5'UTR|SEMA4C_uc002sxh.4_Missense_Mutation_p.G487S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	487	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GAGCGGGAGCCGGCAAAGAGC	0.687000													5	27					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44079911	44079911	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44079911C>T	uc001mxw.1	+	11	1428	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	ACCSL_uc009ykr.2_Missense_Mutation_p.R277W	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	458							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTACCGGCTCCGGGAAGCTCA	0.463000													4	99					0	0	1	0	0
CREBL2	1389	broad.mit.edu	37	12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12788823G>A	uc001rap.1	+	1	404	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_uc009zhv.1_5'Flank	NM_001310	NP_001301	O60519	CRBL2_HUMAN	Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.	43					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463000													13	31					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245769	202245769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:202245769G>A	uc002uyb.4	-	15	2688	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	748				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGATGCCTCGCTCTTGTAGA	0.512000													50	162					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13249043	13249043	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13249043C>T	uc002mwm.3	+	5	1575	c.1407C>T	c.(1405-1407)cgC>cgT	p.R469R		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	469	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACGCCCGCCGCGTCGTGCGCA	0.607000													61	158					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131158	12131158	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:12131158C>T	uc001ild.4	+	4	990	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	297					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACCCCGTGGCCGTGGGCAAAA	0.612000													7	117					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72776115	72776115	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72776115C>T	uc002llw.2	+	7	6491	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	2146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652000													9	8					0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150636167	150636167	+	Missense_Mutation	SNP	G	G	A	rs149790730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150636167G>A	uc001evj.2	-	2	473	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GOLPH3L_uc010pci.1_Intron	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	86						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCGACCCCGCATGGCCAGC	0.507000													6	92					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49195732	49195732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:49195732G>A	uc002xvl.3	+	6	904	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PTPN1_uc010zys.2_Missense_Mutation_p.V171I	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	244	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	p.S243S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CCCTTCTTCCGTTGATATCAA	0.488000													52	189					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28843606	28843606	+	Missense_Mutation	SNP	G	G	A	rs150073438		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:28843606G>A	uc002dqy.3	+	10	1569	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G468S|ATXN2L_uc002dqz.3_Missense_Mutation_p.G468S|ATXN2L_uc002dra.3_Missense_Mutation_p.G468S|ATXN2L_uc002drb.3_Missense_Mutation_p.G468S|ATXN2L_uc002drc.3_Missense_Mutation_p.G468S|ATXN2L_uc010vdb.2_Missense_Mutation_p.G474S|ATXN2L_uc002dre.3_Missense_Mutation_p.G468S|ATXN2L_uc002drf.3_Intron|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	468						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTCCCATCGGCTCGGCAGT	0.592000													27	73					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101825108	101825108	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101825108G>A	uc001kql.2	-	3	856	c.596C>T	c.(595-597)gCg>gTg	p.A199V		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	199	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R198Q(1)		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)		CCGGATCACCGCCCGGGTCTC	0.577000													13	55					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913360	136913360	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:136913360G>A	uc003qhc.3	-	22	3537	c.3176C>T	c.(3175-3177)aCg>aTg	p.T1059M	MAP3K5_uc011edj.2_Missense_Mutation_p.T306M|MAP3K5_uc011edk.1_Missense_Mutation_p.T905M	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1059					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding	p.T1059T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGTCTTCCGTCAGGATCCT	0.448000													49	110					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378749	51378749	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51378749C>T	uc011bds.2	+	37	3871	c.3848C>T	c.(3847-3849)tCg>tTg	p.S1283L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1283	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTACCCATCGCAGACAGAG	0.552000													10	21					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18874469	18874469	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18874469C>T	uc002gut.1	+	7	825	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	SLC5A10_uc002gur.1_Missense_Mutation_p.P179S|SLC5A10_uc002guu.1_Missense_Mutation_p.P262S|SLC5A10_uc002guv.1_Missense_Mutation_p.P235S|SLC5A10_uc010vyl.1_Missense_Mutation_p.P262S|FAM83G_uc002guw.3_3'UTR	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	262					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGGGGACCTGCCGTGGACCGG	0.637000													21	51					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515877	51515877	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:51515877C>T	uc010ric.2	+	0	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199A(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTCATTGCTGCCAACAGTGGA	0.483000													8	102					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140482934	140482934	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:140482934T>C	uc003vwc.4	-	9	1262	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	401					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.T401I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GCAGGGGGGGTAGCAGACAAA	0.438000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	26					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850401	40850401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:40850401C>T	uc002law.3	-	3	1552	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.A377T	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	395						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTGCTGCTGCACCCAAGACT	0.483000													12	220					0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:28290024C>T	uc001bph.1	+	1	387	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607000													15	63					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2196168	2196168	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2196168C>T	uc002fub.1	-	4	2310	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	SMG6_uc002fud.2_Missense_Mutation_p.R721H	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	752					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGTACCTGCGTGCTTTCCC	0.478000													15	54					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230506	104230506	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104230506G>A	uc001kvt.3	+	4	555	c.336G>A	c.(334-336)tcG>tcA	p.S112S	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Silent_p.S112S	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	112						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCGCTGTCGTTCCTGGCGT	0.692000													61	134					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2025082C>T	uc002cnu.1	+	6	720	c.618C>T	c.(616-618)gaC>gaT	p.D206D	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652000													9	60					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27630137	27630137	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27630137C>T	uc009vst.2	+	13	2029	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	WDTC1_uc001bno.3_Silent_p.G497G|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_Silent_p.G176G	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	498							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGGTGGCGGCGCCCCAGTCC	0.592000													25	61					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133949508	133949508	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:133949508C>T	uc001lkx.4	+	4	1044	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCGGAAGAACGAGGATTTGT	0.493000													14	25					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245861488	245861488	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:245861488G>A	uc001ibf.1	+	12	6345	c.5905G>A	c.(5905-5907)Gtc>Atc	p.V1969I		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1969					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCACAGGCGTCCGCTGGGT	0.602000													15	39					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135275597	135275597	+	Silent	SNP	G	G	A	rs144643349	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135275597G>A	uc004cbl.3	-	2	1485	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	472					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCTTATTTCGGAATCTTCAG	0.413000													17	58					0	0	1	0	0
FAM176A	84141	broad.mit.edu	37	2	75745250	75745250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:75745250C>T	uc002sni.2	-	2	495	c.17G>A	c.(16-18)aGc>aAc	p.S6N	FAM176A_uc002snj.1_5'UTR|FAM176A_uc002snk.1_Missense_Mutation_p.S6N	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	6	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						TGGGCTGTGGCTGAGGGGCAG	0.567000													11	52					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48670955	48670955	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48670955C>T	uc003cuf.1	-	36	10319	c.10319G>A	c.(10318-10320)cGc>cAc	p.R3440H	CELSR3_uc003cug.3_Missense_Mutation_p.R25H|CELSR3_uc011bbp.2_Missense_Mutation_p.R46H|CELSR3_uc010hke.3_5'UTR|CELSR3_uc003cuk.3_Missense_Mutation_p.R46H|CELSR3_uc003cuh.3_Missense_Mutation_p.R46H|CELSR3_uc003cui.3_Missense_Mutation_p.R46H|CELSR3_uc003cuj.3_Missense_Mutation_p.R46H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGCCCCAGCGCCCCAGCTC	0.652000													43	98					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211430	72211430	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:72211430G>A	uc003xyu.3	-	8	1318	c.678C>T	c.(676-678)taC>taT	p.Y226Y	EYA1_uc003xyt.4_Silent_p.Y193Y|EYA1_uc003xyr.4_Silent_p.Y221Y|EYA1_uc010lzf.3_Silent_p.Y153Y|EYA1_uc003xys.4_Silent_p.Y226Y|EYA1_uc011lfe.2_Silent_p.Y220Y|EYA1_uc003xyv.3_Silent_p.Y104Y	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	226					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATACTGTGCGTACTGACCCT	0.453000													36	98					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130949671	130949671	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130949671C>T	uc002tqv.3	-	4	1187	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	362					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCCGGGGACCACTGTGGGGG	0.592000													30	73					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285737	27285737	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:27285737C>T	uc003szd.1	+	2	1403	c.917C>T	c.(916-918)cCg>cTg	p.P306L	EVX1_uc011jzn.1_Missense_Mutation_p.P124L|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCGCTGCGCCCGCTCGACACG	0.761000													5	16					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:192973512C>T	uc003fta.3	+	1	478	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	25								p.R25H(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488000													60	132					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41608016	41608016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:41608016C>T	uc003gvz.4	+	3	421	c.4C>T	c.(4-6)Cga>Tga	p.R2*	LIMCH1_uc003gvt.1_Nonsense_Mutation_p.R2*|LIMCH1_uc003gwe.4_Nonsense_Mutation_p.R161*|LIMCH1_uc003gvu.4_Nonsense_Mutation_p.R161*|LIMCH1_uc003gvv.4_Nonsense_Mutation_p.R161*|LIMCH1_uc003gvw.4_Nonsense_Mutation_p.R161*|LIMCH1_uc003gvx.4_Nonsense_Mutation_p.R161*|LIMCH1_uc003gvy.4_Nonsense_Mutation_p.R2*|LIMCH1_uc003gwa.4_Nonsense_Mutation_p.R2*	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	161					actomyosin structure organization		actin binding|zinc ion binding	p.R2*(1)|p.R161*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGCTCAGATGCGAAAGGTAAC	0.428000													18	37					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43024050	43024050	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43024050G>T	uc003ots.1	-	2	522	c.399C>A	c.(397-399)ccC>ccA	p.P133P	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Silent_p.P133P	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	133					translation	mitochondrion|ribosome	structural constituent of ribosome	p.D132Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CTTGCCTACAGGGATCATAGC	0.493000													20	62					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226149	114226149	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:114226149C>T	uc001edk.3	+	20	4140	c.3959C>T	c.(3958-3960)aCg>aTg	p.T1320M	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1345					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		GCAGGCTATACGGGCAGTAAT	0.438000													35	88					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464908	97464908	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97464908G>A	uc002swx.3	+	3	1894	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	CNNM4_uc010yuy.2_Missense_Mutation_p.R86H	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	599					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACTACGCCCGCCATTACCTG	0.567000													47	62					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151553473	151553473	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151553473G>A	uc010pdf.2	+	12	1265	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	TUFT1_uc001eyl.3_Missense_Mutation_p.G355D|TUFT1_uc001eym.3_Missense_Mutation_p.G330D|TUFT1_uc010pdg.2_Missense_Mutation_p.G303D			Q9NNX1	TUFT1_HUMAN	Homo sapiens tuftelin 1 (TUFT1), transcript variant 1, mRNA.	355					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTCATGGCAACTTCAGC	0.527000													26	48					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721408	56721408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:56721408A>G	uc001skx.3	-	5	1036	c.659T>C	c.(658-660)cTg>cCg	p.L220P	PAN2_uc001sky.3_Missense_Mutation_p.L220P|PAN2_uc001skz.3_Missense_Mutation_p.L220P	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.L220L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGTCTCTCAGGGAAACCTA	0.453000													21	59					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212599	100212599	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100212599G>A	uc003uvq.3	+	4	823	c.621G>A	c.(619-621)ctG>ctA	p.L207L	MOSPD3_uc003uvr.3_Silent_p.L207L|MOSPD3_uc003uvs.3_Silent_p.L207L|MOSPD3_uc003uvt.3_Silent_p.L197L	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	207						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCCAGCTGCCTCAAGTCC	0.617000													6	213					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156620	21156620	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:21156620G>A	uc010vbe.2	-	2	330	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH3_uc002die.2_Silent_p.I81I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGTTGGCGATGGAATCAC	0.557000													3	46					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25611102	25611102	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:25611102G>A	uc002rgh.3	-	16	1954	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DTNB_uc002rgg.3_Silent_p.V197V|DTNB_uc010yko.2_Silent_p.V504V|DTNB_uc002rgi.3_Silent_p.V568V|DTNB_uc002rgj.3_Silent_p.V568V|DTNB_uc002rgk.3_Silent_p.V538V|DTNB_uc002rgl.3_Silent_p.V531V|DTNB_uc002rgq.3_Silent_p.V561V|DTNB_uc002rgn.3_Silent_p.V357V|DTNB_uc010ykp.2_Silent_p.V357V|DTNB_uc002rgp.1_Silent_p.V66V	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	568						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTCCCCCGACTCCGCTCA	0.652000													8	19					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34262435	34262435	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:34262435G>A	uc002xdw.2	-	9	1131	c.1054_splice	c.e9+1	p.G352_splice	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_Splice_Site|NFS1_uc002xdt.2_Splice_Site_p.G292_splice|NFS1_uc010zvl.2_Splice_Site_p.G301_splice|NFS1_uc010zvk.2_Splice_Site_p.G150_splice	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	352					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGTCCATACCGGGATAATGGT	0.468000													22	73					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389112	19389112	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:19389112C>T	uc022btq.1	-	23	3365	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	MAP3K15_uc004czj.2_Missense_Mutation_p.R557Q|MAP3K15_uc004czk.2_Missense_Mutation_p.R597Q|MAP3K15_uc004czi.2_Missense_Mutation_p.R56Q	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1122							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCACCGCTCGGCGGATGAT	0.438000													6	59					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002947	69002947	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:69002947G>A	uc003xxv.1	+	19	2274	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	PREX2_uc003xxu.1_Silent_p.T749T|PREX2_uc011lez.1_Silent_p.T684T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	749	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.T749T(3)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473000													19	43					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849591	40849591	+	Silent	SNP	G	G	A	rs142952244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40849591G>A	uc002iay.3	+	21	3804	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1196	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCATTGACCCGGAGATCCAGC	0.577000													28	74					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135554	31135554	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:31135554G>A	uc010sju.2	+	5	924	c.544G>A	c.(544-546)Gac>Aac	p.D182N	TSPAN11_uc001rjp.3_Missense_Mutation_p.D182N|TSPAN11_uc010sjv.2_Missense_Mutation_p.D172N	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	182						integral to membrane		p.P181P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTGCCCGACAGCTGCTG	0.637000													7	23					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6639708	6639708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6639708G>A	uc003sqo.1	+	3	829	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	C7orf26_uc003sqp.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	277										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCCGGGCGTGGGGATGGA	0.552000													12	48					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:26463097G>T	uc001isn.2	+	29	4264	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448000													22	92					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036727	55036727	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:55036727C>T	uc010rid.2	+	4	674	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	180						intracellular	zinc ion binding	p.G196E(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGAGTGAGTCCGTGCTGCTGC	0.468000													16	40					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211829	38211829	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38211829C>T	uc003aua.2	+	6	1115	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	GCAT_uc003atz.3_Missense_Mutation_p.A325V	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCTATGGCTGCCAAGACCCAG	0.617000													37	135					0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605621	209605621	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:209605621C>T	uc009xcn.3	+	3	619	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		gccaccaccgccgccgccacc	0.582000													7	14					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613207	70613207	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70613207A>G	uc004dzu.4	+	20	3156	c.3105A>G	c.(3103-3105)gaA>gaG	p.E1035E	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.E1056E|TAF1_uc004dzv.4_Silent_p.E209E	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1035					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTCAACAGAACAGGCTCGTT	0.458000													6	72					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2416745	2416745	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:2416745G>A	uc001lwf.1	+	4	687	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	152					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GACCTTCCACGAGACGGTGCG	0.657000													19	50					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49432374	49432374	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49432374C>T	uc001rta.4	-	33	8765	c.8765G>A	c.(8764-8766)cGg>cAg	p.R2922Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2922	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R2922Q(1)|p.R2652Q(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGCCAGGCCCCGAAGCCCTTC	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			5	97					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99132912	99132912	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:99132912G>A	uc001knf.3	-	17	2211	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.P409L|RRP12_uc010qou.2_Missense_Mutation_p.P630L|RRP12_uc009xvn.3_Missense_Mutation_p.P591L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	691						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAGAGGATCGGCAGAAAGTT	0.557000													13	48					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347383	31347383	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:31347383G>A	uc001bse.2	-	3	970	c.923C>T	c.(922-924)cCg>cTg	p.P308L	SDC3_uc001bsd.2_Missense_Mutation_p.P250L	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	308						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACTCACCGGAACCTCTGG	0.602000													40	101					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425735	49425735	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:49425735G>A	uc003ozg.4	-	2	687	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	141					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGATGTGTCGCCAGATCAAA	0.388000													22	39					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201324531	201324531	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201324531T>C	uc010zhc.2	+	8	1041	c.918T>C	c.(916-918)gaT>gaC	p.D306D	SPATS2L_uc002uvn.4_Silent_p.D276D|SPATS2L_uc010fst.3_Silent_p.D276D|SPATS2L_uc002uvo.4_Silent_p.D216D|SPATS2L_uc002uvp.4_Silent_p.D276D|SPATS2L_uc002uvq.4_Silent_p.D207D|SPATS2L_uc002uvr.4_Silent_p.D276D	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	276						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAAATGGATAAAGTTAAAG	0.343000													4	18					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124810572	124810572	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:124810572A>G	uc001lhb.3	+	8	1115	c.998A>G	c.(997-999)cAa>cGa	p.Q333R	ACADSB_uc010qub.2_Missense_Mutation_p.Q231R	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	333					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAGGGCCTCCAACACCAAGTG	0.453000													4	17					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197158	38197158	+	Missense_Mutation	SNP	G	G	A	rs145892280	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:38197158G>A	uc009vvi.3	-	6	1674	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	530	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCGGCCCGGATCTGAAAG	0.602000													4	173					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41145959	41145959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:41145959C>T	uc001zna.3	+	4	997	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPINT1_uc001znb.3_Missense_Mutation_p.R265C|SPINT1_uc001znc.3_Missense_Mutation_p.R265C|SPINT1_uc010ucs.2_Missense_Mutation_p.R265C	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	265	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		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;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTTTCCCACGCTGGTACTA	0.577000													12	171					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231742222	231742222	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231742222C>T	uc002vqz.3	+	4	789	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ITM2C_uc002vra.3_Silent_p.N176N|ITM2C_uc002vrb.3_Silent_p.N186N|ITM2C_uc002vrc.3_Silent_p.N112N|ITM2C_uc002vrd.3_Silent_p.N75N	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	223	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACCTGTGCAACGGGAAAGACA	0.627000													30	85					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961767	1961767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1961767G>A	uc010cjy.3	+	1	1840	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	HIC1_uc002fty.4_Missense_Mutation_p.A595T|HIC1_uc002ftz.4_Missense_Mutation_p.A595T|HIC1_uc021tnn.1_Missense_Mutation_p.A595T	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	614					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GAAGATGCACGCCGTgggggg	0.726000													5	18					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495025	96495025	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:96495025C>T	uc001kjv.4	+	8	1623	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C19_uc001kjw.4_Missense_Mutation_p.R374W|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433W(1)|p.R433Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCAGGAAAACGGATGTGTAT	0.403000													18	76					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275464	129275464	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129275464G>A	uc003emx.2	-	34	5757	c.5657C>T	c.(5656-5658)cCg>cTg	p.P1886L	PLXND1_uc003emw.2_Missense_Mutation_p.P42L|PLXND1_uc011blb.1_Missense_Mutation_p.P555L	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1886					axon guidance	integral to membrane|intracellular|plasma membrane			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						ACTCACCTGCGGCCGATACCT	0.542000													7	22					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1780295	1780295	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1780295G>A	uc001luc.2	-	3	508	c.375C>T	c.(373-375)agC>agT	p.S125S	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	125					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.N124S(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACTTGTCGCTGTTGTACT	0.627000													79	180					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089741	43089741	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43089741C>T	uc003bdb.3	-	2	478	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	A4GALT_uc021wqo.1_Missense_Mutation_p.G73S|A4GALT_uc021wqp.1_Missense_Mutation_p.G73S|A4GALT_uc010gzd.3_Missense_Mutation_p.G73S|A4GALT_uc021wqq.1_Missense_Mutation_p.G73S	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	73					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGAGTGGGGCCGTGGGAGGGT	0.622000													14	44					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903178	129903178	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:129903178T>C	uc001lke.3	-	12	7121	c.6926A>G	c.(6925-6927)aAg>aGg	p.K2309R	MKI67_uc001lkf.3_Missense_Mutation_p.K1949R|MKI67_uc009yav.1_Missense_Mutation_p.K1884R|MKI67_uc009yaw.1_Missense_Mutation_p.K1459R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2309	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.488000													4	347					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223398	80223398	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80223398C>T	uc003piy.3	-	3	863	c.251G>A	c.(250-252)cGc>cAc	p.R84H	LCA5_uc003pix.3_Missense_Mutation_p.R84H|LCA5_uc011dyr.2_Missense_Mutation_p.R84H	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	84					protein transport	cilium axoneme|microtubule basal body	protein binding	p.R84H(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTGGGAGCGAAATCCCAC	0.438000													73	210					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:23966372C>T	uc002wts.3	-	4	596	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_uc002wtu.3_Missense_Mutation_p.V155M	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	155							gamma-glutamyltransferase activity	p.V155M(3)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612000													17	167					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507627	18507627	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18507627G>A	uc002niw.3	-	0	789	c.147C>T	c.(145-147)agC>agT	p.S49S	LRRC25_uc002nix.3_Silent_p.S49S	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	49						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCAGGCTCAGGCTGAGGCCAC	0.607000													14	38					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	rs35057827		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124053260G>A	uc003ehg.3	+	8	1686	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	KALRN_uc010hrv.1_Missense_Mutation_p.R520Q|KALRN_uc003ehf.1_Missense_Mutation_p.R520Q|KALRN_uc011bjy.1_Missense_Mutation_p.R520Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGCGACGGCTGGAGAGC	0.622000													31	81					0	0	1	0	0
WHSC2	7469	broad.mit.edu	37	4	1991465	1991465	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1991465C>T	uc003gem.3	-	2	790	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	WHSC2_uc003gel.3_Missense_Mutation_p.A97T|WHSC2_uc003gen.3_Missense_Mutation_p.A37T	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	172					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		p.A172T(1)		breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CGCAGCGTGGCGCTCTTGGGT	0.572000													78	240					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786686	45786686	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45786686T>C	uc010gpt.1	+	3	573	c.473T>C	c.(472-474)aTg>aCg	p.M158T	TRPM2_uc002zet.1_Missense_Mutation_p.M158T|TRPM2_uc002zeu.1_Missense_Mutation_p.M158T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.M158T|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	158						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.L157I(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCACCTCATGACCCAGCAC	0.607000													4	92					0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100137845	100137845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100137845G>A	uc011lut.2	+	49	6371	c.5365G>A	c.(5365-5367)Gtg>Atg	p.V1789M	C9orf174_uc004axe.2_Missense_Mutation_p.V1595M|C9orf174_uc011lus.2_Missense_Mutation_p.V1376M|C9orf174_uc004axg.2_Missense_Mutation_p.V1650M|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1595						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CCTGGCGGCCGTGGAAGCCCG	0.597000													20	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481223	179481223	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179481223G>A	uc021vsy.1	-	205	40816	c.40591C>T	c.(40591-40593)Cgg>Tgg	p.R13531W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R7226W|TTN_uc021vta.1_Missense_Mutation_p.R7159W|TTN_uc021vtb.1_Missense_Mutation_p.R7034W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14458	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTTTCCGGCTGACTTCT	0.433000													5	149					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083366	114083366	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:114083366C>T	uc001vtq.1	-	3	634	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	ADPRHL1_uc001vtp.1_Missense_Mutation_p.A101T	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	183					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCTTGTGCGGCGAACGACACA	0.667000													3	28					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188336	121188336	+	Silent	SNP	G	G	A	rs148052592		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:121188336G>A	uc003kss.3	+	0	687	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	226					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGCCTGGCGGAGTACCTTT	0.502000													45	140					0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75143386	75143386	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75143386G>A	uc001xqb.3	-	5	1056	c.551C>T	c.(550-552)cCg>cTg	p.P184L	KIAA0317_uc010tut.1_Missense_Mutation_p.P23L	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AAGGGTGTGCGGCTGCCCACA	0.428000													16	70					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193377284	193377284	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:193377284T>C	uc003ftg.3	+	24	2688	c.2454T>C	c.(2452-2454)atT>atC	p.I818I	OPA1_uc003fth.3_Silent_p.I782I|OPA1_uc003fti.3_Silent_p.I800I|OPA1_uc003ftj.3_Silent_p.I781I|OPA1_uc003ftk.3_Silent_p.I764I|OPA1_uc003ftl.3_Silent_p.I745I|OPA1_uc003ftm.3_Silent_p.I763I|OPA1_uc003ftn.3_Silent_p.I727I	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	763					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAATGCAATTGAAAACATGG	0.318000													5	11					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191299	68191299	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:68191299G>A	uc001xjz.4	+	3	502	c.178G>A	c.(178-180)Gct>Act	p.A60T		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	60					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGAGAGCTCGCTAGCCGAGG	0.557000													19	61					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151860463	151860463	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:151860463C>T	uc003wla.3	-	42	10418	c.10199G>A	c.(10198-10200)cGt>cAt	p.R3400H	MLL3_uc003wkz.3_Missense_Mutation_p.R2461H|MLL3_uc003wky.3_Missense_Mutation_p.R909H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3400	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACGTTCCTTACGTTCCCGTTC	0.468000			N		medulloblastoma								5	243					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268946	1268946	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1268946C>T	uc001lta.3	+	30	10895	c.10836C>T	c.(10834-10836)ccC>ccT	p.P3612P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3612	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGCAGCCCCTGGGCCTCG	0.677000													5	149					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24262246	24262246	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:24262246C>T	uc002rep.2	-	1	250	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	C2orf44_uc010eya.2_Missense_Mutation_p.R40Q	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	40							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGAAGCCGCAAATCAGT	0.507000			T	ALK	NSCLC								16	62					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973691	128973691	+	Silent	SNP	C	C	T	rs139302074	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:128973691C>T	uc001lju.1	-	0	1010	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642000													53	130					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756273	71756273	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71756273C>T	uc003kce.1	-	1	1237	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCTTGAGCTCGCTGGGGTAG	0.647000													11	43					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8132064	8132064	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8132064C>A	uc002gkq.4	-	20	3427	c.3368G>T	c.(3367-3369)gGg>gTg	p.G1123V	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1123					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCTCCAGGCCCTGCAAACTG	0.552000													19	32					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8524957	8524957	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8524957C>T	uc003zkk.3	-	17	1390	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PTPRD_uc003zkp.3_Missense_Mutation_p.R216H|PTPRD_uc003zkq.3_Missense_Mutation_p.R216H|PTPRD_uc003zkr.3_Missense_Mutation_p.R210H|PTPRD_uc003zks.3_Missense_Mutation_p.R210H|PTPRD_uc022bdj.1_Missense_Mutation_p.R213H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	216	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R216G(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		agcggaatagcGAGTGCCCGC	0.488000										TSP Lung(15;0.13)			8	170					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2806990	2806990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2806990G>A	uc002lwj.3	+	6	981	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	THOP1_uc010xgz.2_Missense_Mutation_p.A155T|THOP1_uc002lwk.3_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	276					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CCACACGCACGCCGACTATGT	0.627000													6	49					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1347003	1347003	+	Missense_Mutation	SNP	C	C	T	rs144329202	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1347003C>T	uc003gde.4	+	4	1183	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	246																	CCCTGACCCCCGGGACGGGGA	0.706000													23	41					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210434	228210434	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228210434G>A	uc001hrp.2	+	1	245	c.138G>A	c.(136-138)ccG>ccA	p.P46P	WNT3A_uc001hrq.2_Silent_p.P46P	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	46					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAGCATCCCGGGCCTGGTCC	0.642000													29	63					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121216025G>A	uc003yox.3	+	8	1220	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	319	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468000													16	43					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067934	11067934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:11067934G>A	uc010hdq.3	+	9	1378	c.967G>A	c.(967-969)Gtc>Atc	p.V323I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	323					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTCCATCATCGTCTGCTGCAT	0.582000													54	137					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937471	152937471	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:152937471A>G	uc011myu.2	-	4	713	c.527T>C	c.(526-528)gTg>gCg	p.V176A	PNCK_uc011myt.2_Missense_Mutation_p.V110A|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.V120A|PNCK_uc011myw.2_Missense_Mutation_p.V120A	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	93	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCGTCACCCTGGGGGT	0.667000													3	26					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130293932	130293932	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130293932G>A	uc004brh.3	-	1	383	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM129B_uc004bri.3_Missense_Mutation_p.R48C|FAM129B_uc004brj.4_Missense_Mutation_p.R61C	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	61							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCACCTTGCGCCAGAGCAGC	0.592000													36	72					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583452	82583452	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82583452T>C	uc003uhx.2	-	4	7106	c.6817A>G	c.(6817-6819)Atc>Gtc	p.I2273V	PCLO_uc003uhv.2_Missense_Mutation_p.I2273V|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2204					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTCTATGATAGAAGATGCC	0.403000													7	116					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11317936	11317936	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11317936C>T	uc002rbc.3	+	6	724	c.591C>T	c.(589-591)acC>acT	p.T197T	PQLC3_uc010yjk.2_Silent_p.T183T	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.	197						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGAAGACCGCTATAAAGG	0.348000													5	45					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588019	204588019	+	Missense_Mutation	SNP	C	C	T	rs149220897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:204588019C>T	uc021phy.1	-	0	1102	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.G368S|LRRN2_uc001hbf.1_Missense_Mutation_p.G368S|LRRN2_uc009xbf.1_Missense_Mutation_p.G368S|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	368					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGGGGTTGCCGTGGAGACCT	0.637000													27	65					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736335	219736335	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219736335C>T	uc002vjc.1	+	2	645	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	144					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccctccccggccctccgg	0.796000													4	14					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130289058C>T	uc001qgg.4	-	1	1208	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	284	Peptidase M12B.				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)		CCCCCATTGTCGGACACCTCT	0.552000													76	202					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690698	99690698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99690698G>A	uc003usw.1	-	14	2527	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	MCM7_uc003usv.1_Nonsense_Mutation_p.R497*|MCM7_uc003usx.1_Nonsense_Mutation_p.R497*|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	673	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGGACACTTCGGCCCCCTGAG	0.547000													11	38					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360137	47360137	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:47360137C>T	uc021qis.1	-	22	2297	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	MYBPC3_uc021qir.1_Missense_Mutation_p.V400I|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	747	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCGTGTAGACGCCCTCATCT	0.637000													13	45					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114183174	114183174	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:114183174C>T	uc001por.1	+	4	1034	c.770C>T	c.(769-771)gCg>gTg	p.A257V	NNMT_uc001pos.1_Missense_Mutation_p.A257V	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	257					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCCTGGTGGCGAGGAAGCTG	0.483000													14	106					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229397	140229397	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140229397C>A	uc003lhu.2	+	0	2041	c.1317C>A	c.(1315-1317)gcC>gcA	p.A439A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.A439A	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	453	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCACGGCCAGGGTGTCTG	0.667000													61	146					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829831	72829831	+	Silent	SNP	C	C	T	rs139895950	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:72829831C>T	uc002fck.3	-	8	7423	c.6750G>A	c.(6748-6750)acG>acA	p.T2250T	ZFHX3_uc002fcl.3_Silent_p.T1336T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2250					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGTCCGTAAACCTTG	0.512000													40	95					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13264116	13264116	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13264116C>T	uc001imd.3	-	4	474	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	135						proteinaceous extracellular matrix		p.R135C(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTGTGGTGGCGGTTGTAGAG	0.587000													15	45					0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114428700	114428700	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:114428700G>A	uc001kzz.3	+	6	879	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	VTI1A_uc001kzy.3_Missense_Mutation_p.R168Q	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	168					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGTAGCTTCGGGAAACAGAT	0.373000			T	TCF7L2	colorectal								8	118					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818986	85818986	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:85818986G>A	uc002spu.1	+	2	224	c.141_splice	c.e2+1	p.M47_splice		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	47	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						CCTGGATATGGTGTGAGGCCT	0.567000													5	158					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59965595	59965595	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:59965595C>T	uc001xei.4	+	4	1153	c.651C>T	c.(649-651)acC>acT	p.T217T	JKAMP_uc001xef.4_Silent_p.T203T|JKAMP_uc001xeh.4_Silent_p.T197T|JKAMP_uc001xeg.4_Silent_p.T211T|JKAMP_uc010try.2_Silent_p.T140T|JKAMP_uc001xej.4_Silent_p.T140T	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	218					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAATTTTAACCGTGCTTCAGG	0.358000													9	17					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58048626C>T	uc002qpb.2	+	3	503	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_uc002qpa.2_Missense_Mutation_p.A72V	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453000													22	81					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064774	37064774	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:37064774G>A	uc003jkl.4	+	46	8694	c.8195G>A	c.(8194-8196)aGc>aAc	p.S2732N	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2732					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	p.T2731P(1)		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)			CAGAAAACCAGCAGTGGCTTC	0.507000													59	123					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755543	101755543	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101755543C>T	uc001vox.1	-	25	3226	c.3037G>A	c.(3037-3039)Ggc>Agc	p.G1013S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1013						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1013C(2)|p.S1012N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453000													8	149					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607296	607296	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:607296C>A	uc001lqe.3	+	13	1971	c.1840C>A	c.(1840-1842)Cgg>Agg	p.R614R	PHRF1_uc010qwc.2_Silent_p.R613R|PHRF1_uc010qwd.2_Silent_p.R612R|PHRF1_uc010qwe.2_Silent_p.R610R|PHRF1_uc009ybz.1_Silent_p.R404R|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	614							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTCAGGCTCGGAACTTGTC	0.672000													5	143					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235903	33235903	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33235903G>A	uc003odm.1	-	7	992	c.782C>T	c.(781-783)aCg>aTg	p.T261M	VPS52_uc003odn.1_Missense_Mutation_p.T136M|VPS52_uc003odo.1_Missense_Mutation_p.T186M|VPS52_uc011dqy.1_Missense_Mutation_p.T136M|VPS52_uc011dqz.1_Missense_Mutation_p.T136M	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	261					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGCAGGGCCGTCTGGGGGAT	0.512000													114	263					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7682662	7682662	+	Silent	SNP	C	C	T	rs144218986		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7682662C>T	uc002giu.1	+	34	5657	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1881	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTGGCTGCCGGCCTCACCC	0.532000													11	31					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895751	41895751	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41895751T>C	uc003bac.3	+	1	80	c.58T>C	c.(58-60)Tac>Cac	p.Y20H		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	20					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTGCGGCAGTACCATGTGGC	0.527000													9	341					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589863	140589863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140589863G>A	uc003liz.3	+	0	1573	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PCDHB12_uc011dak.2_Missense_Mutation_p.E125K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	462	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.617000													12	201					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698444	17698444	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:17698444T>C	uc002grm.3	+	2	2651	c.2182T>C	c.(2182-2184)Tgt>Cgt	p.C728R	RAI1_uc002grn.1_Missense_Mutation_p.C728R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	728						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCTTTTGACTGTTTCCCGGA	0.597000													34	93					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149511934	149511934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149511934G>A	uc010lpk.3	+	73	10475	c.10475G>A	c.(10474-10476)cGg>cAg	p.R3492Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3495	TSP type-1 14.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGGAGCCGGGCGTGCAGC	0.677000													4	1					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575245	4575245	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:4575245G>A	uc002fyi.4	-	15	3267	c.3041C>T	c.(3040-3042)aCg>aTg	p.T1014M	PELP1_uc010vsf.2_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	1014	Glu-rich.|Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCTCCTCCGTCCCTGGCTC	0.677000													3	21					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366907	15366907	+	Silent	SNP	C	C	T	rs142701429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366907C>T	uc002nar.3	-	8	1941	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	BRD4_uc002nas.3_Silent_p.T573T|BRD4_uc002nat.3_Silent_p.T573T|BRD4_uc002nau.4_Silent_p.T573T	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	573	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tatttttcttcgtctttttag	0.443000			T	C15orf55	lethal midline carcinoma of young people								4	39					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18332308	18332308	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18332308T>A	uc001mod.1	-	4	735	c.457A>T	c.(457-459)Aat>Tat	p.N153Y	HPS5_uc001moe.1_Missense_Mutation_p.N39Y|HPS5_uc001mof.1_Missense_Mutation_p.N39Y	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	153						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGAAGTATTGAGTTTGATA	0.398000									Hermansky-Pudlak syndrome				22	50					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117887	104117887	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117887A>G	uc010ouo.2	+	17	2625	c.921A>G	c.(919-921)gcA>gcG	p.A307A	AMY2B_uc001duq.3_Silent_p.A307A|AMY2B_uc001dur.3_Silent_p.A307A|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	307					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTGACAGAGCACTTGTCTTTG	0.413000													9	390					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246711852	246711852	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:246711852G>A	uc001ibn.3	-	5	978	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	TFB2M_uc010pys.1_Non-coding_Transcript	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA.	285					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTACCCTACGCTTTGGGTTT	0.348000													4	77					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4496343	4496343	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4496343C>T	uc002mao.3	+	9	1362	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDGFRP2_uc002map.3_Silent_p.P423P|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	423					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GCACAGAGCCCGCCAGGAAAC	0.627000													7	23					0	0	1	0	0
DKFZP586I1420	222161	broad.mit.edu	37	7	30411329	30411329	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30411329C>T	uc003tau.3	+	0		c.1664C>T								Homo sapiens uncharacterized protein DKFZp586I1420 (DKFZP586I1420), non-coding RNA.																		CCTCTGGAGGCGGCAGGTGCA	0.473000													3	5					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85431281	85431281	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85431281G>A	uc001dkm.3	-	1	429	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	63						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTTTCCACGGAATCTGGCG	0.413000													19	35					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116014686	116014686	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:116014686C>T	uc001lbl.1	+	3	461	c.140C>T	c.(139-141)tCg>tTg	p.S47L	VWA2_uc001lbk.1_Missense_Mutation_p.S47L|VWA2_uc009xyf.1_Intron	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	47						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGGTGCTCGGCTGCAGTG	0.527000													8	237					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360535	16360535	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16360535G>A	uc002wpg.2	-	18	2271	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	KIF16B_uc002wpe.1_Silent_p.R86R|KIF16B_uc002wpf.1_Silent_p.R86R|KIF16B_uc010gch.2_Silent_p.R704R|KIF16B_uc010gci.2_Silent_p.R704R|KIF16B_uc010gcj.2_Silent_p.R715R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	704	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.L703F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTCTTGGACGCGGAGAAAGG	0.443000													10	105					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95188892	95188892	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:95188892C>T	uc003ygh.2	-	4	426	c.301G>A	c.(301-303)Gct>Act	p.A101T	CDH17_uc011lgo.1_Missense_Mutation_p.A101T|CDH17_uc011lgp.1_Missense_Mutation_p.A101T	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	101	Cadherin 1.					integral to membrane	calcium ion binding	p.D100D(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTCCATTAGCGTCCAGGGCT	0.453000													23	39					0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30666926	30666926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:30666926C>T	uc002hhg.3	-	2	323	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	85					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTCCACTTCGGATGGTAGA	0.458000													4	74					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199031	118199031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:118199031C>T	uc001two.2	-	3	739	c.684G>A	c.(682-684)gcG>gcA	p.A228A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	257	Pro-rich.				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)					GGGTGCGGACCGCGTGCCGCT	0.736000													63	148					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54646863G>A	uc002qdj.2	+	2	358	c.34G>A	c.(34-36)Gat>Aat	p.D12N	CNOT3_uc010yel.2_Missense_Mutation_p.D12N|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Missense_Mutation_p.D12N|CNOT3_uc010ere.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D12H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537000													61	170					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211136	249211136	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211136G>A	uc001ifh.3	+	2	500	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.R115H|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGATATTCGTCCAGACTTT	0.493000													15	56					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373861	39373861	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:39373861C>T	uc010hhr.2	+	1	177	c.39C>T	c.(37-39)acC>acT	p.T13T	CCR8_uc003cjm.2_5'UTR|CCR8_uc021wwe.1_Silent_p.T13T	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	13					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACAGTGACCGACTACTACT	0.438000													36	96					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155649577	155649577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:155649577C>T	uc003faq.3	+	12	1919	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	GMPS_uc011bom.2_Silent_p.Y429Y	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	528					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353000			T	MLL	AML								37	116					0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17688252	17688252	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17688252G>A	uc002nhc.1	+	7	1121	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	GLT25D1_uc010eax.1_Missense_Mutation_p.R98Q	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	370					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						ATCGAGTGCCGGCTGGTGGAG	0.697000													3	7					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457470	42457470	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42457470C>T	uc002igt.1	-	16	1684	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	ITGA2B_uc002igu.1_Missense_Mutation_p.R32Q	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	551					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCAGCACCCGCCGGCCCTG	0.672000													21	38					0	0	1	0	0
PF4	5196	broad.mit.edu	37	4	74846961	74846961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:74846961G>A	uc003hhi.2	-	2	311	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	89					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CTTGTACAGCGGGGCTTGCAG	0.423000													24	64					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6193761	6193761	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6193761C>T	uc011jwo.1	+	14	2699	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L	USP42_uc011jwp.2_Missense_Mutation_p.P859L|USP42_uc011jwq.2_Missense_Mutation_p.P666L|USP42_uc011jwr.1_Missense_Mutation_p.P704L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	859	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			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)		AGTCCGGCTCCGCCTGCGCGG	0.716000													22	60					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	40993313	40993313	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40993313C>A	uc001zmi.4	+	2	438	c.139C>A	c.(139-141)Cat>Aat	p.H47N	RAD51_uc010bbw.3_Missense_Mutation_p.H47N|RAD51_uc010bbx.3_Missense_Mutation_p.H47N|RAD51_uc001zml.4_Missense_Mutation_p.H47N|RAD51_uc001zmm.1_Non-coding_Transcript|RAD51_uc001zmn.1_5'UTR	NM_002875	NP_002866	Q06609	RAD51_HUMAN	Homo sapiens RAD51 homolog (S. cerevisiae) (RAD51), transcript variant 1, mRNA.	47					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	PML body|mitochondrial matrix|nucleus|perinuclear region of cytoplasm	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGCTGGATTCCATACTGTGGA	0.383000								Homologous recombination					31	69					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428868	48428868	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:48428868G>A	uc001jfb.3	-	1	1446	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	GDF10_uc009xnp.3_Missense_Mutation_p.R339C|GDF10_uc009xnq.2_Missense_Mutation_p.R340C	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	340					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R340C(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTTCCTGCGGTCTTTGCGC	0.662000													23	37					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:86465140G>A	uc004ana.3	-	15	3574	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	KIF27_uc010mpw.3_Missense_Mutation_p.R1078W|KIF27_uc010mpx.3_Missense_Mutation_p.R1047W	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1144					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATTATCCCGTTCCAGAACT	0.383000													32	69					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40330128	40330128	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40330128T>C	uc002hzb.2	-	3	908	c.575A>G	c.(574-576)aAg>aGg	p.K192R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	192					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)		ATTATTGGCCTTCATGCCTCC	0.607000													39	108					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121251942	121251942	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:121251942G>A	uc003eee.4	-	5	984	c.855C>T	c.(853-855)acC>acT	p.T285T		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	285	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCGAAAGTCGGTATGGTAGA	0.448000								DNA polymerases (catalytic subunits)					19	70					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24574974	24574974	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24574974A>G	uc002dmh.3	+	12	2549	c.1509A>G	c.(1507-1509)ccA>ccG	p.P503P	RBBP6_uc010vcb.1_Silent_p.P370P|RBBP6_uc002dmi.3_Silent_p.P503P|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Silent_p.P370P	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTGGTCGACCAGGCTGGGAAC	0.383000													10	34					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226027660	226027660	+	Missense_Mutation	SNP	G	G	A	rs45449793	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226027660G>A	uc001hpk.3	+	5	933	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	EPHX1_uc001hpl.3_Missense_Mutation_p.V285I	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	285			V -> L (in dbSNP:rs45449793).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGTACCCCGTCAAGGAGAA	0.557000													41	80					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000													5	78					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528318	121528318	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121528318G>A	uc003ypc.1	+	17	2178	c.2133G>A	c.(2131-2133)tcG>tcA	p.S711S		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	711	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTAGTTTCGTCAGATCCTG	0.423000													5	121					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44156708	44156708	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:44156708C>T	uc001cjx.3	+	13	2396	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	744					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						GTGCAGCGTCCGGGTCCATGC	0.567000													56	136					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	rs148600920	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30670918C>T	uc003nrg.4	-	11	6268	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1_uc003nrf.4_Missense_Mutation_p.R574Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1943	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597000								Other conserved DNA damage response genes					5	61					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168067347	168067347	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:168067347G>A	uc002udx.3	+	3	754	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	XIRP2_uc010fpn.3_Missense_Mutation_p.R255Q|XIRP2_uc010fpo.3_Missense_Mutation_p.R222Q|XIRP2_uc002udy.3_Missense_Mutation_p.R47Q|XIRP2_uc010fpq.3_5'UTR|XIRP2_uc010fpr.3_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	47					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						CTGAAGGAGCGGATGGCGAGG	0.557000													44	116					0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2259563	2259563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2259563G>A	uc010bsh.3	-	4	818	c.583C>T	c.(583-585)Cga>Tga	p.R195*	C16orf79_uc002cpi.2_Nonsense_Mutation_p.R195*	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	195						integral to membrane		p.R195*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CCCTCTGCTCGCCGGGCCCAG	0.697000													27	154					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888013	12888013	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:12888013C>T	uc002gnr.4	+	19	2432	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	ARHGAP44_uc010vvk.2_Missense_Mutation_p.S702L|ARHGAP44_uc010vvl.2_Missense_Mutation_p.S696L|ARHGAP44_uc002gns.4_Missense_Mutation_p.S496L|ARHGAP44_uc010vvm.2_Missense_Mutation_p.S696L|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	702					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCTTGGCCTCGGGCCAGCTC	0.652000													10	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412307	179412307	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179412307C>T	uc021vsy.1	-	287	86567	c.86342G>A	c.(86341-86343)cGt>cAt	p.R28781H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22476H|TTN_uc021vta.1_Missense_Mutation_p.R22409H|TTN_uc021vtb.1_Missense_Mutation_p.R22284H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29708	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCGATTCACGCTTTTCAAC	0.423000													24	61					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479773	100479773	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100479773G>A	uc003uwy.2	+	4	765	c.498G>A	c.(496-498)acG>acA	p.T166T	SRRT_uc010lhl.1_Silent_p.T166T|SRRT_uc003uxa.2_Silent_p.T166T|SRRT_uc003uwz.2_Silent_p.T166T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	166					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.T166M(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGATGAGACGGAGGCCGTCA	0.567000													22	50					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3879897C>T	uc002kmf.3	-	3	699	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_uc010wyz.2_Missense_Mutation_p.V58M|DLGAP1_uc002kmk.2_Missense_Mutation_p.V58M|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	58					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.V58M(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672000													7	152					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11142844	11142844	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11142844C>T	uc001asa.3	-	9	1231	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	EXOSC10_uc001asb.3_Missense_Mutation_p.R394H|EXOSC10_uc009vmy.1_Missense_Mutation_p.R394H	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	394					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTTAAGAAGGCGTGCTGCCTG	0.448000													4	149					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984807	118984807	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:118984807C>T	uc001pvn.3	+	12	2003	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	C2CD2L_uc001pvo.3_Silent_p.D547D	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	547						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TTGCTCAGGACGAGTTGGCGC	0.627000													36	129					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17279878	17279878	+	Missense_Mutation	SNP	C	C	T	rs111474169		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17279878C>T	uc001azt.2	+	20	3157	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	CROCC_uc009voz.1_Missense_Mutation_p.R629W|CROCC_uc001azu.2_Missense_Mutation_p.R333W	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1030					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGGCCCGGCTGGAGGC	0.672000													16	28					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366930	15366930	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366930T>C	uc002nar.3	-	8	1918	c.1696A>G	c.(1696-1698)Aag>Gag	p.K566E	BRD4_uc002nas.3_Missense_Mutation_p.K566E|BRD4_uc002nat.3_Missense_Mutation_p.K566E|BRD4_uc002nau.4_Missense_Mutation_p.K566E	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	566	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggaggttccttggctttgctt	0.418000			T	C15orf55	lethal midline carcinoma of young people								11	39					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40193595	40193595	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40193595C>T	uc002yxf.3	+	9	1621	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	ETS2_uc002yxg.3_Silent_p.D387D	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	387					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACTGGAGACGGATGGGAGT	0.532000													40	90					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041481	38041481	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38041481C>T	uc003ati.3	+	9	1626	c.888C>T	c.(886-888)tgC>tgT	p.C296C	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Silent_p.C296C|SH3BP1_uc003ath.1_Silent_p.C296C|SH3BP1_uc003atj.1_Silent_p.C232C|SH3BP1_uc003atk.1_Silent_p.C210C|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	296	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGAGGCCTGCGTCATGATGC	0.637000													5	122					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336184	127336184	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127336184G>A	uc003ejp.3	+	10	1893	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	MCM2_uc011bkm.2_Silent_p.S482S|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.S565S	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	612	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCCATCTCGAAGGCTGGCA	0.587000													12	53					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47904070	47904070	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:47904070C>T	uc002ipm.3	+	13	1859	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	KAT7_uc002ipl.2_Missense_Mutation_p.T518M|KAT7_uc010wma.2_Missense_Mutation_p.T409M|KAT7_uc010wmb.2_Missense_Mutation_p.T438M|KAT7_uc010wmc.2_Missense_Mutation_p.T379M|KAT7_uc010wmd.2_Missense_Mutation_p.T392M|KAT7_uc010wme.2_Missense_Mutation_p.T362M|KAT7_uc010wmf.2_Missense_Mutation_p.T213M|KAT7_uc010wmg.2_Missense_Mutation_p.T103M	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	548					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T548M(1)									AGTCAGGAGACGGCTGTGAAT	0.478000													8	154					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876686	21876686	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:21876686C>T	uc001war.2	-	11	2580	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	CHD8_uc001was.2_Missense_Mutation_p.G560R|CHD8_uc001wav.1_Missense_Mutation_p.G2R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	839	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|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|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|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)		TTGCCCAATCCCATCTCATCA	0.408000													7	29					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638262	12638262	+	Silent	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12638262A>C	uc002mty.3	-	3	870	c.660T>G	c.(658-660)acT>acG	p.T220T	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTTTCTCTCCAGTGTGAGTTC	0.398000													4	99					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27437499	27437499	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27437499C>T	uc002hdt.1	-	17	3200	c.3042G>A	c.(3040-3042)gcG>gcA	p.A1014A	MYO18A_uc010wbc.1_Silent_p.A556A|MYO18A_uc002hds.2_Silent_p.A556A|MYO18A_uc010csa.1_Silent_p.A1014A|MYO18A_uc002hdu.1_Silent_p.A1014A|MYO18A_uc010wbd.1_Silent_p.A683A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1014	Myosin head-like.			A -> V (in Ref. 1; BAD66838).	DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTTTGACAGCCGCCATGCCTG	0.647000													3	11					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803588	803588	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:803588T>C	uc002lpr.2	+	2	173	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.C23R|PTBP1_uc002lpq.2_Missense_Mutation_p.C23R|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	23					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTTCTCTACTTGTGTCACTAA	0.612000													24	135					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048649	50048649	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50048649T>C	uc002xwd.3	-	8	2897	c.2677A>G	c.(2677-2679)Acc>Gcc	p.T893A	NFATC2_uc002xwc.3_Missense_Mutation_p.T893A|NFATC2_uc010zyv.2_Missense_Mutation_p.T674A|NFATC2_uc010zyw.2_Missense_Mutation_p.T674A|NFATC2_uc002xwe.3_Missense_Mutation_p.T873A|NFATC2_uc010zyx.2_Missense_Mutation_p.T873A|NFATC2_uc010zyy.2_Missense_Mutation_p.T674A|NFATC2_uc010zyz.2_Missense_Mutation_p.T674A	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	893					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTTTAATGGTCACCCCCGCA	0.522000													7	213					0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670351	156670351	+	Missense_Mutation	SNP	C	C	T	rs146571038	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156670351C>T	uc001fpr.3	-	2	570	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_uc021pbi.1_Missense_Mutation_p.D117N	NM_001878	NP_001869	P29373	RABP2_HUMAN	Homo sapiens cellular retinoic acid binding protein 2 (CRABP2), transcript variant 1, mRNA.	117					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGTTCCCCATCGTTGGTCAGT	0.547000													4	69					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103926	117103926	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117103926C>T	uc004biq.3	-	19	4089	c.3954G>A	c.(3952-3954)tcG>tcA	p.S1318S	AKNA_uc004bin.3_Silent_p.S565S|AKNA_uc004bio.3_Silent_p.S778S|AKNA_uc004bip.3_Silent_p.S1237S|AKNA_uc004bir.3_Silent_p.S1318S|AKNA_uc004bis.3_Silent_p.S1318S|AKNA_uc010mve.2_Silent_p.S1199S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGGCGTGGCGACGACCCCG	0.627000													32	106					0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100082480	100082480	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100082480G>A	uc011lut.2	+	24	2707	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	C9orf174_uc004axe.2_Silent_p.K567K|C9orf174_uc011lus.2_Silent_p.K385K|C9orf174_uc004axg.2_Silent_p.K428K|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.K428K|C9orf174_uc011luv.1_Silent_p.K425K	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	567						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CCCTGAACAAGGAGCTAGGTG	0.527000													53	135					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139609729	139609729	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:139609729T>G	uc021zfy.1	-	1	473	c.308A>C	c.(307-309)gAg>gCg	p.E103A		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	103						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGTTGTTTCCTCACAGTCCCC	0.532000													5	116					0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38798088C>T	uc002ohz.2	-	6	818	c.769G>A	c.(769-771)Gta>Ata	p.V257I	YIF1B_uc002ohw.2_Missense_Mutation_p.V226I|YIF1B_uc002ohx.2_Missense_Mutation_p.V242I|YIF1B_uc010xtx.1_Missense_Mutation_p.V240I|YIF1B_uc010xty.1_Missense_Mutation_p.V226I|YIF1B_uc002oia.2_Missense_Mutation_p.V254I|YIF1B_uc002ohy.2_Missense_Mutation_p.V254I|YIF1B_uc002oib.3_Missense_Mutation_p.V254I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	257						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622000													8	31					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8449746G>A	uc003zkk.3	-	33	4710	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_uc003zkp.3_Missense_Mutation_p.R917C|PTPRD_uc003zkq.3_Missense_Mutation_p.R916C|PTPRD_uc003zkr.3_Missense_Mutation_p.R907C|PTPRD_uc003zks.3_Missense_Mutation_p.R902C|PTPRD_uc022bdj.1_Missense_Mutation_p.R913C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1323C(2)|p.R794C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463000										TSP Lung(15;0.13)			26	117					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17608233	17608233	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17608233C>T	uc002ngu.1	+	6	1216	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	SLC27A1_uc002ngt.1_Missense_Mutation_p.A121V|SLC27A1_uc010xpp.1_Missense_Mutation_p.A210V|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	389	Sufficient for oligomerization (By similarity).				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			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTACGGCGCCACCGAGTGC	0.667000													16	20					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29630469	29630469	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:29630469C>T	uc001rix.1	-	10	1113	c.1113_splice	c.e10+1	p.R371_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	371	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAAACTTACACGTTTGTTTTG	0.368000													15	42					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79426159	79426159	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79426159C>T	uc002kaf.2	+	19	5499	c.5499C>T	c.(5497-5499)taC>taT	p.Y1833Y	BAHCC1_uc002kae.2_Silent_p.Y1125Y	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1895							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCCTGCTGTACGCGGGCAGCG	0.687000													8	14					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48744475	48744475	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:48744475C>T	uc003xqi.3	-	60	8219	c.8162G>A	c.(8161-8163)cGg>cAg	p.R2721Q	PRKDC_uc003xqj.3_Missense_Mutation_p.R2721Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2722	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAGGTCCGTCCGGCCGGCCGC	0.567000								Non-homologous end-joining					7	208					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	989313	989313	+	Silent	SNP	C	C	A	rs143373928	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:989313C>A	uc001ack.2	+	33	5882	c.5832C>A	c.(5830-5832)acC>acA	p.T1944T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1944	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCGTTCCACCGTGCCCGTCA	0.647000													8	8					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:53073993G>A	uc003xqz.2	-	8	1692	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ST18_uc011ldq.1_Silent_p.F159F|ST18_uc011ldr.1_Silent_p.F477F|ST18_uc011lds.1_Silent_p.F417F|ST18_uc003xra.2_Silent_p.F512F|ST18_uc003xrb.2_Silent_p.F512F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	512						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)				GGCGTTTACCGAAAACTTGGG	0.438000													9	147					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756485	129756485	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129756485C>T	uc003vpj.2	+	2	589	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KLHDC10_uc003vpk.2_Missense_Mutation_p.R123W|KLHDC10_uc010lmb.2_Intron	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	152								p.R152R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTACATGCCCCGGGAATTGGC	0.468000													42	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152278093C>T	uc001ezu.1	-	2	9305	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3090	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.582000									Ichthyosis				114	235					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717893	101717893	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101717893G>A	uc001vox.1	-	39	4656	c.4467C>T	c.(4465-4467)cgC>cgT	p.R1489R		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1489						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R1489C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACTTGACGCGGAACGTGG	0.532000													4	88					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32130816	32130816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32130816C>A	uc001btk.1	-	55	3877	c.3512G>T	c.(3511-3513)gGc>gTc	p.G1171V	COL16A1_uc001btj.1_Missense_Mutation_p.G969V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1171	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAACTTTGCCTGGGAATCC	0.577000													10	120					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73575024	73575024	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:73575024A>T	uc001jrx.4	+	67	10435	c.10045A>T	c.(10045-10047)Aca>Tca	p.T3349S	CDH23_uc001jsg.4_Missense_Mutation_p.T1112S|CDH23_uc001jsh.4_Missense_Mutation_p.T1077S|CDH23_uc001jsi.4_Missense_Mutation_p.T1077S|CDH23_uc001jsj.4_Missense_Mutation_p.T249S|CDH23_uc010qjr.2_Missense_Mutation_p.T214S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3352					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGGAGATCACAGAGCTGTG	0.647000													8	11					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211162G>A	uc010xxd.2	+	5	1176	c.970G>A	c.(970-972)Gtg>Atg	p.V324M		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	324										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652000													5	15					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502485	50502485	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50502485G>A	uc003bjg.1	-	10	1310	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	MLC1_uc011arl.1_Missense_Mutation_p.P294L|MLC1_uc003bjh.1_Missense_Mutation_p.P346L|MLC1_uc011arm.1_Missense_Mutation_p.P316L|MLC1_uc011arn.1_Missense_Mutation_p.P267L|MLC1_uc011aro.1_Missense_Mutation_p.P312L	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	346						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCGCTCCTGCGGGCCGTTCTG	0.706000													6	35					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179131318	179131318	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:179131318G>T	uc003fjv.4	-	7	861	c.581C>A	c.(580-582)cCt>cAt	p.P194H	GNB4_uc003fju.4_Missense_Mutation_p.P105H	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	194					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCATGTCAGGACTCAAAGA	0.433000													26	63					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53518597	53518597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:53518597G>A	uc001xai.3	-	11	2716	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	DDHD1_uc001xaj.3_Intron|DDHD1_uc001xah.3_Intron|DDHD1_uc001xag.3_Intron	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	829	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TACATTTTCCGGAAAAAGAAG	0.338000													5	11					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52184185	52184185	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52184185G>A	uc001ryw.3	+	24	4601	c.4423G>A	c.(4423-4425)Gga>Aga	p.G1475R	SCN8A_uc010snl.2_Missense_Mutation_p.G1434R	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1475					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTACTTCGGAGGTCAGGA	0.463000													5	14					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235572	50235572	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50235572C>T	uc002xwg.1	-	19	2126	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ATP9A_uc010gih.1_Missense_Mutation_p.R573H|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	709					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCCTCCCCGCGGTTGGTCAC	0.587000													16	35					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	C	G	rs80129796	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39274020C>G	uc002hvz.3	-	0	587	c.548G>C	c.(547-549)aGc>aCc	p.S183T		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	183						keratin filament				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)			GCGGGGGCAGCTGGAGATGAC	0.622000													3	15					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944328	50944328	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50944328G>A	uc002psf.2	+	7	815	c.764G>A	c.(763-765)aGt>aAt	p.S255N		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	255	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCAAGAAGAGTGCAGGTCAG	0.567000													5	6					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554157	28554157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:28554157C>T	uc003nlo.3	-	0	956	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	113	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527000													7	230					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111741628	111741628	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:111741628C>T	uc004bdo.1	-	6	1076	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	CTNNAL1_uc010mts.1_Missense_Mutation_p.R81H|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R345H	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	345					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCCAAGATGCGTTCTCTGTG	0.413000													20	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581482	82581482	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82581482G>A	uc003uhx.2	-	4	9076	c.8787C>T	c.(8785-8787)ccC>ccT	p.P2929P	PCLO_uc003uhv.2_Silent_p.P2929P|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2860					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAAATCAACGGGTTTTTCAT	0.428000													13	121					0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9463772	9463772	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9463772C>T	uc001qvp.2	+	11		c.998C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		GTAACCTGTGCGGTGTGGTTT	0.627000													7	53					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689638	150689638	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150689638C>T	uc001evk.2	-	2	272	c.154G>A	c.(154-156)Gct>Act	p.A52T	HORMAD1_uc001evl.2_Missense_Mutation_p.A52T|HORMAD1_uc001evm.2_Missense_Mutation_p.R2H	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	52	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		p.C51C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCATAAGCGCATTCTGGG	0.318000													5	98					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073796	135073796	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135073796C>T	uc004cbh.2	+	2	1433	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	219	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.R218S(1)|p.R218C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGACCGCTTCGCCATCTTTG	0.657000													25	69					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934404	4934404	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4934404G>A	uc002cyd.1	-	21	4342	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1418					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACCTCGCGCTCGGCCTCC	0.701000													24	86					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22246272	22246272	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22246272T>C	uc001uog.2	+	0	1058	c.221T>C	c.(220-222)tTa>tCa	p.L74S		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	74					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			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)		GGATTTCACTTAGAAATCTTC	0.507000													40	56					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43465702	43465702	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:43465702C>T	uc001mxi.3	+	17	2678	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	TTC17_uc001mxh.3_Missense_Mutation_p.R927C|TTC17_uc010rfj.2_Missense_Mutation_p.R870C|TTC17_uc001mxj.3_Missense_Mutation_p.R697C	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	870							binding	p.R870C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAATGGACATCGTTACCAAGC	0.408000													17	39					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231927025	231927025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231927025G>A	uc002vrn.2	+	2	286	c.124G>A	c.(124-126)Gta>Ata	p.V42I	PSMD1_uc002vrm.2_Missense_Mutation_p.V42I|PSMD1_uc010fxu.2_5'UTR	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	42					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.V42fs*1(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303000													9	16					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711065	40711065	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40711065C>T	uc002ona.3	+	3	1338	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	350	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCCAGATTTCGGTAGCATCT	0.597000													14	153					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262500	1262500	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1262500G>A	uc001lta.3	+	30	4449	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1464	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGCAACCGAAAAGACCAC	0.706000													5	7					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535156	124535156	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:124535156C>T	uc004bln.3	+	11	2334	c.2265C>T	c.(2263-2265)gcC>gcT	p.A755A	DAB2IP_uc004blo.3_Silent_p.A659A|DAB2IP_uc004blp.3_Silent_p.A188A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	783					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756000													9	20					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687842	109687842	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:109687842C>T	uc004bcz.3	+	2	1938	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P398L|ZNF462_uc004bda.3_Missense_Mutation_p.P398L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	550					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ccaccgccgccgccaccacca	0.602000													8	28					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46629960	46629960	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:46629960G>A	uc001vaw.3	-	9	1091	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Missense_Mutation_p.R305C	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	342					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCAATAGCACGAACTGCTTCA	0.343000													18	54					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17102627	17102627	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:17102627A>C	uc003wxf.1	-	1	203	c.35T>G	c.(34-36)aTt>aGt	p.I12S	CNOT7_uc003wxg.1_Missense_Mutation_p.I12S|CNOT7_uc003wxh.1_Missense_Mutation_p.I12S|CNOT7_uc003wxi.1_Missense_Mutation_p.I12S|VPS37A_uc003wxj.3_5'Flank|VPS37A_uc003wxk.3_5'Flank	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	12					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AACTTCACAAATTCTTTGGCT	0.398000													14	29					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140792918	140792918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140792918C>T	uc003lkl.2	+	0	176	c.176C>T	c.(175-177)gCg>gTg	p.A59V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.A59V	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	55	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTCTGGCGCCCCGGGAG	0.607000													7	182					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162680660	162680660	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:162680660G>A	uc003iqh.3	-	5	1066	c.630C>T	c.(628-630)ggC>ggT	p.G210G	FSTL5_uc003iqi.3_Silent_p.G209G|FSTL5_uc010iqv.3_Silent_p.G209G	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	210	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGATCCTTGCCAAGTTCTT	0.284000													17	50					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215392	8215392	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8215392C>T	uc002glc.3	+	1	190	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ARHGEF15_uc002glb.2_Missense_Mutation_p.P12L|ARHGEF15_uc002gld.3_Missense_Mutation_p.P12L|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P12L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	12	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P12S(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAACACCCCCCACGCAGAAG	0.637000													10	85					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160097	2160097	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2160097C>T	uc002cos.1	-	14	5280	c.5071G>A	c.(5071-5073)Ggc>Agc	p.G1691S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.G1691S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1691	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTAGGTGCCGGCCTCGAGC	0.687000													9	13					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	114720	114720	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:114720C>T	uc002cfl.4	-	2	368	c.225G>A	c.(223-225)acG>acA	p.T75T	RHBDF1_uc010uty.2_Silent_p.T98T|RHBDF1_uc010utz.2_Silent_p.T75T|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	75					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.T75M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTGTGATGGACGTCTGGCGTT	0.642000													5	151					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568521	43568521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43568521G>A	uc003bdq.3	-	9	1443	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	TTLL12_uc003bdp.3_5'Flank|TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	461	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGTCTTCTCGAAGGAACAAC	0.587000													12	67					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178967	223178967	+	Missense_Mutation	SNP	G	G	A	rs148545972	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:223178967G>A	uc001hnu.2	+	9	4554	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1410					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.P1409T(1)|p.E1410D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCGACCCCGAGAATAAACA	0.478000													30	59					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816276	102816276	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102816276G>A	uc021sea.1	-	3	550	c.461C>T	c.(460-462)aCg>aTg	p.T154M	CINP_uc001ylu.1_Non-coding_Transcript|CINP_uc001ylv.1_Missense_Mutation_p.T139M|CINP_uc021seb.1_Intron	NM_001177611	NP_001171082	Q9BW66	CINP_HUMAN	Homo sapiens cyclin-dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA.	139					DNA repair|DNA replication|cell cycle|cell division	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGTAGGCCACGTGTGGAACAG	0.418000													15	47					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4516290	4516290	+	Silent	SNP	G	G	A	rs145734906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4516290G>A	uc002cwm.3	-	3	549	c.393C>T	c.(391-393)gaC>gaT	p.D131D	NMRAL1_uc002cwn.3_Silent_p.D131D|NMRAL1_uc002cwo.3_Silent_p.D131D	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA.	131						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCCTTTGCCGTCAAAGTGCG	0.592000													13	39					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18956195G>A	uc001mpg.3	-	0	355	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	46					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A46T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACAACTGCGTTTCCTGT	0.582000													73	357					0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101989014	101989014	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:101989014G>A	uc011kkp.2	-	5	1280	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	287	Arg-rich.																TGGAACCAACGCTTACGGAGC	0.542000													8	936					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388644	56388644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:56388644G>A	uc010bfn.3	-	8	1282	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.R242C	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	331					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGGTAACGGTGCCGGGCA	0.532000													10	31					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5365760	5365760	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:5365760C>T	uc002gca.3	-	2	758	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	DHX33_uc002gbz.3_5'Flank|DHX33_uc002gcb.3_Missense_Mutation_p.R13Q|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	186	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTATTTCCGAAGCAAAGA	0.458000													29	75					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101552591	101552591	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:101552591G>A	uc004ayu.3	-	1	678	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKS6_uc004ayy.2_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	219										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGGCTGCGTGGTTGGGGT	0.692000													4	87					0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97088128	97088128	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:97088128G>A	uc004aup.1	-	1	126	c.105C>T	c.(103-105)ccC>ccT	p.P35P		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	35										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GTGCTGGGCCGGGAGCGGGTG	0.667000													19	41					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48559455	48559455	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48559455G>A	uc003ctv.3	-	12	1331	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	PFKFB4_uc003ctx.3_Silent_p.N395N|PFKFB4_uc010hkb.3_Silent_p.N431N|PFKFB4_uc003ctw.3_Silent_p.N247N|PFKFB4_uc010hkc.3_Silent_p.N403N|PFKFB4_uc011bbm.2_Silent_p.N427N	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	438	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCAGCCACGTTCAGGAATA	0.557000													17	64					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779492	140779492	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140779492C>T	uc003lkf.2	+	0	1798	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.L600L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCCTGGCTGTCCTACCA	0.682000													4	90					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76831511	76831511	+	Missense_Mutation	SNP	C	C	T	rs148226667		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:76831511C>T	uc002jvz.1	-	3	651	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	USP36_uc002jwa.1_Missense_Mutation_p.R109Q|USP36_uc002jwd.1_Missense_Mutation_p.R109Q	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	109					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGAGACAGTCGCTCCGTGGG	0.582000													9	30					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37316002	37316002	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:37316002G>A	uc001caz.2	-	8	1371	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	GRIK3_uc001cba.1_Silent_p.D412D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	412					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGAGCCCGTCGGCAGGAC	0.537000													23	36					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677626	7677626	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7677626G>A	uc002mgu.4	+	12	2429	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	CAMSAP3_uc002mgv.4_Silent_p.T749T|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	749	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGGCCCCACGACGGGGCCCA	0.766000													5	5					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700833	7700833	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7700833C>T	uc002giu.1	+	50	8079	c.8065C>T	c.(8065-8067)Cgt>Tgt	p.R2689C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2689					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCAAGCGTCCTCCTAT	0.532000													4	189					0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54663422	54663422	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54663422C>T	uc002qdm.3	-	0	25	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	4										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTGGGCAAGATATTCA	0.627000											OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	15					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849604	224849604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:224849604C>T	uc010zlr.1	-	4	922	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINE2_uc002vnu.2_Missense_Mutation_p.S250N|SERPINE2_uc002vnv.2_Missense_Mutation_p.S250N	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	250					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGCTGATGCTTTCCCCGTG	0.502000													15	47					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170725811	170725811	+	Silent	SNP	G	G	A	rs148315082		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170725811G>A	uc003mba.3	+	27	3358	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	RANBP17_uc003mbb.3_Silent_p.A397A|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1072					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.E1071K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAGAGGCGTTGCGCAGTG	0.498000			T	TRD@	ALL								9	33					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739857	124739857	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124739857C>T	uc011bke.2	-	3	1099	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	HEG1_uc003ehs.4_Missense_Mutation_p.R344Q	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	335						extracellular region|integral to membrane	calcium ion binding	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTCAAAGATCGCAGCGTTCT	0.527000													5	30					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038028	145038028	+	Silent	SNP	G	G	A	rs140442202		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:145038028G>A	uc003ijo.4	-	4	452	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.Y79Y|GYPA_uc003ijp.4_Silent_p.Y80Y|GYPA_uc010ioq.3_Silent_p.Y99Y|GYPA_uc010ior.3_Silent_p.Y47Y|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368000													38	90					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800212	12800212	+	Nonsense_Mutation	SNP	G	G	A	rs146837377	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12800212G>A	uc010dyx.2	-	8	1336	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	FBXW9_uc010xmp.2_Non-coding_Transcript|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Nonsense_Mutation_p.R426*	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	456							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCATGCCTTCGGGTGCAAATG	0.622000													11	28					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402907	241402907	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241402907C>T	uc002vyw.4	+	3	1082	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	287					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCGACCTGGACGCCGAGTGGA	0.682000													22	55					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13868281	13868281	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13868281G>A	uc002mxc.1	+	4	407	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	CCDC130_uc010xnf.2_Missense_Mutation_p.G64S	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	64					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAACCACATCGGCATGGGTGA	0.557000													9	18					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75558141	75558141	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75558141G>A	uc001xrl.3	-	18	2428	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	NEK9_uc001xrj.3_5'UTR|NEK9_uc001xrk.3_Silent_p.G258G	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	758	Interaction with NEK6.|Poly-Gly.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTTCACCACCGCCGCCCCCGC	0.522000													15	30					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260309	45260309	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45260309G>A	uc010xxe.2	+	3	625	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	185					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCACATTACCGTCTGTGGTCC	0.667000			T	IGH@	CLL								5	21					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140871074	140871074	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140871074C>T	uc003lla.2	+	0	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.T756M	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	756					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T756T(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGACGGCACGCTCAAGTAC	0.637000													5	76					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839547	150839547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839547G>A	uc003wjg.1	+	15	2102	c.2099G>A	c.(2098-2100)tGc>tAc	p.C700Y	AGAP3_uc003wje.1_Missense_Mutation_p.C369Y|AGAP3_uc003wjj.1_Missense_Mutation_p.C199Y|AGAP3_uc003wjk.1_Missense_Mutation_p.C118Y	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	664	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGCATTGAGTGCTCAGGCATC	0.627000													20	37					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385933	56385933	+	Missense_Mutation	SNP	G	G	A	rs143530655		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56385933G>A	uc002ivx.4	-	21	5571	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.A1507V|BZRAP1_uc010wnt.2_Missense_Mutation_p.A1567V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1567						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGCCCGTCGCACTGCGGCC	0.711000													36	49					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788369	42788369	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:42788369C>T	uc002xli.1	-	1	1931	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	353					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGCATGCGGCGCTTGGT	0.657000													4	39					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91700524	91700524	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91700524C>T	uc021ryk.1	-	0	871	c.871G>A	c.(871-873)Gag>Aag	p.E291K	GPR68_uc001xzg.3_Missense_Mutation_p.E291K|GPR68_uc001xzh.3_Missense_Mutation_p.E291K	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	291					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGTGGTCTCGCTGACGAAG	0.692000													4	9					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319048	123319048	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:123319048G>A	uc003pzi.1	+	1	995	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	42					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCACCAGGCCGGACATTGGCT	0.567000													30	77					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139285281	139285281	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139285281C>T	uc003vvf.4	-	10	2588	c.2317G>A	c.(2317-2319)Ggt>Agt	p.G773S	HIPK2_uc003vvd.4_Missense_Mutation_p.G746S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	773	Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding	p.T772I(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTCACATGACCGGTCAATAGT	0.552000													7	99					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884792	22884792	+	Nonsense_Mutation	SNP	G	G	A	rs138183043		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22884792G>A	uc003xcu.2	-	6	1083	c.790C>T	c.(790-792)Cga>Tga	p.R264*	TNFRSF10B_uc003xcs.1_Nonsense_Mutation_p.R29*|TNFRSF10B_uc011kzq.1_Nonsense_Mutation_p.R84*|TNFRSF10B_uc003xcv.2_Nonsense_Mutation_p.R162*|TNFRSF10B_uc003xct.2_Nonsense_Mutation_p.R235*	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	264					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity	p.R264Q(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCCCCAGGTCGTTGTGAGCTC	0.567000													7	70					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977736	56977736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:56977736G>A	uc001cyj.2	-	4	1290	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	241					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGACAGTCCCGTGTAGAAGGC	0.577000													25	69					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364665	29364665	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:29364665C>A	uc003nmf.4	+	0	250	c.189C>A	c.(187-189)aaC>aaA	p.N63K		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCTGGGAAACCTGTCCTACC	0.438000													26	66					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699022	145699022	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:145699022T>C	uc001eol.1	-	4	687	c.469A>G	c.(469-471)Act>Gct	p.T157A	CD160_uc001eom.1_Missense_Mutation_p.T48A|CD160_uc010oyz.1_Non-coding_Transcript	NM_007053	NP_008984	O95971	BY55_HUMAN	Homo sapiens CD160 molecule (CD160), mRNA.	157					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAACTGAGAGTGCCTTCATTA	0.488000													5	70					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50873400	50873400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50873400C>T	uc003blb.2	+	13	1828	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	PPP6R2_uc003blc.3_Missense_Mutation_p.A469V|PPP6R2_uc003bky.2_Missense_Mutation_p.A469V|PPP6R2_uc003bla.2_Missense_Mutation_p.A470V|PPP6R2_uc003bkz.2_Missense_Mutation_p.A469V|PPP6R2_uc003bld.2_Missense_Mutation_p.A28V	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	469						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGGGCAGCGGGTGGCATG	0.667000													9	30					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442715	77442715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:77442715A>G	uc004ajl.1	-	6	1058	c.820T>C	c.(820-822)Tct>Cct	p.S274P	TRPM6_uc004ajk.1_Missense_Mutation_p.S269P|TRPM6_uc022bib.1_Missense_Mutation_p.S269P|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S274P|TRPM6_uc010mpd.1_Missense_Mutation_p.S274P|TRPM6_uc010mpe.1_Missense_Mutation_p.S274P|TRPM6_uc004ajn.1_Missense_Mutation_p.S274P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	274					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGCAGAGAGAGGTACTTC	0.512000													21	67					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713451	70713451	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70713451G>A	uc003heo.3	-	5	669	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATAGTACACGTGGACTCTTT	0.358000													16	52					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284917	55284917	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55284917A>T	uc010erz.1	+	2	241	c.203A>T	c.(202-204)gAc>gTc	p.D68V	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.D68V	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	68	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATGTTTAACGACACTTTGCGC	0.517000													5	127					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677817	73677817	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73677817C>T	uc002sje.1	+	7	4271	c.4160C>T	c.(4159-4161)cCg>cTg	p.P1387L	ALMS1_uc002sjf.1_Missense_Mutation_p.P1345L|ALMS1_uc002sjg.3_Missense_Mutation_p.P775L|ALMS1_uc002sjh.1_Missense_Mutation_p.P775L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1387	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGAGAAGCCGAGTATTTTC	0.473000													44	111					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2116221	2116221	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2116221C>T	uc002lva.3	-	17	2281	c.2058G>A	c.(2056-2058)tcG>tcA	p.S686S	AP3D1_uc002luy.3_Silent_p.S595S|AP3D1_uc002luz.3_Silent_p.S686S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	686					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GTGGCGATGGCGAGCTCTTGA	0.652000													8	18					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39973358	39973358	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39973358C>A	uc002hxv.2	+	1	619	c.294C>A	c.(292-294)ctC>ctA	p.L98L	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	98	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGGGCGCCTCATCACTGGCA	0.627000													4	90					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648819	130648819	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130648819C>T	uc001uii.3	+	0	1816	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	444					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592000													11	42					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705442	95705442	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:95705442C>A	uc003uoc.4	+	14	1911	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	DYNC1I1_uc003uod.4_Missense_Mutation_p.P528H|DYNC1I1_uc003uob.3_Missense_Mutation_p.P508H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.P525H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.P534H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	545					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCGTGCATCCTGCGCTTTTT	0.592000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	72					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31492818	31492818	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31492818G>A	uc003ajl.2	+	13	2202	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	SMTN_uc003ajk.2_Missense_Mutation_p.S654N|SMTN_uc003ajm.2_Missense_Mutation_p.S654N|SMTN_uc011ale.2_Missense_Mutation_p.S739N|SMTN_uc011alf.2_Missense_Mutation_p.S710N|SMTN_uc003ajn.2_Missense_Mutation_p.S677N|SMTN_uc011alg.2_Missense_Mutation_p.S110N|SMTN_uc003ajo.2_Intron|SMTN_uc011alh.1_Non-coding_Transcript|SMTN_uc010gwe.2_Intron	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	654					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGAGGCACAGCCAGCGGGCA	0.692000													5	125					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	666151	666151	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:666151G>T	uc003jbg.4	-	1	1117	c.399C>A	c.(397-399)agC>agA	p.S133R	TPPP_uc003jbh.4_Missense_Mutation_p.S133R	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	133					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGCCTCCTCGCTGCTCTTGT	0.632000													5	112					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249999	140249999	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140249999G>A	uc003lia.2	+	0	2169	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.T437T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGGGTAT	0.637000													67	241					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929359	4929359	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4929359C>T	uc002mbp.3	+	1	611	c.318C>T	c.(316-318)acC>acT	p.T106T	UHRF1_uc002mbo.3_Silent_p.T93T|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	93					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTCCGACACCGACTCCGGCT	0.657000													15	36					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507500	17507500	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507500C>T	uc003ncb.3	+	4	644	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S108L|CAP2_uc011djb.2_Missense_Mutation_p.S134L|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	134					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AATCATCTTTCGGCCGTCAGC	0.478000													15	65					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671592	131671592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131671592G>A	uc004bwl.4	+	2	2403	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	LRRC8A_uc010myp.3_Missense_Mutation_p.A717T|LRRC8A_uc010myq.3_Missense_Mutation_p.A717T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	717					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCATCACGGCCAACCGGGT	0.672000													29	86					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128344415	128344415	+	Missense_Mutation	SNP	C	C	T	rs1126829	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:128344415C>T	uc003ekr.1	-	7	1433	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	RPN1_uc011bkq.1_Missense_Mutation_p.V281I	NM_002950	NP_002941	P04843	RPN1_HUMAN	Homo sapiens ribophorin I (RPN1), mRNA.	453					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGATGATAACGGTGAAGAAC	0.517000			T	EVI1	AML								52	176					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:88365930G>A	uc003ydy.2	+	9	1267	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323000													19	52					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180448	90180448	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90180448C>T	uc001dnl.4	+	2	2561	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	773						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)		AACTGGGTGACTGTCGGGCTC	0.413000													17	61					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100243916	100243916	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100243916G>A	uc003uvy.3	-	12	1263	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	386					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton	p.R386C(2)|p.E385*(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGAACTTGCGCTCCATGGTG	0.607000													7	34					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41863582	41863582	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41863582C>T	uc003bab.3	-	2	164	c.113G>A	c.(112-114)cGt>cAt	p.R38H	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	38					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGTGCAGGGACGCACATAGGA	0.502000													21	50					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547964	113547964	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:113547964G>A	uc022blv.1	+	12	1878	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.G493R|MUSK_uc022blu.1_Missense_Mutation_p.G483R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	582	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGAGACATCGGAGAGGGAGC	0.428000													9	104					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39883622C>A	uc003axv.4	+	1	509	c.270C>A	c.(268-270)gcC>gcA	p.A90A	MGAT3_uc010gxy.3_Silent_p.A90A	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	90					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701000													5	110					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375299	8375299	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8375299C>T	uc001qui.2	-	6	1073	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FAM90A1_uc001quh.2_Missense_Mutation_p.E172K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	172							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCAGACATTTCGGTAGCTGAG	0.552000													20	58					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145385	15145385	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:15145385G>A	uc001iny.4	+	2	785	c.72G>A	c.(70-72)tcG>tcA	p.S24S	RPP38_uc009xjm.3_Silent_p.S24S|RPP38_uc001inx.4_Silent_p.S24S|RPP38_uc021pnk.1_Silent_p.S24S	NM_183005	NP_892117	P78345	RPP38_HUMAN	Homo sapiens ribonuclease P/MRP 38kDa subunit (RPP38), transcript variant 1, mRNA.	24				S -> A (in Ref. 1; AA sequence).	tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGAAGACGTCGTTGAACAACC	0.512000													27	67					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429586	20429586	+	Missense_Mutation	SNP	G	G	A	rs142598719	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:20429586G>A	uc002dhe.3	+	2	557	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	ACSM5_uc002dhd.1_Missense_Mutation_p.R137Q	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	137					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.R137Q(2)|p.R137W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTTGCATGCGGACAGGTCAG	0.567000													12	18					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561011	69561011	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:69561011C>T	uc002ary.1	+	4	1510	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	428					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGGTGACCCGTAAGTTAGG	0.488000													6	81					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088044	86088044	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:86088044G>A	uc021rxf.1	+	0	186	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_uc001xvr.3_Silent_p.P62P|FLRT2_uc010atd.3_Silent_p.P62P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	62	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.P62Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517000													47	102					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572381	56572381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56572381C>T	uc002iwj.2	-	15	3232	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	1041						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGCACCTGTCGACGTAGCTG	0.527000													19	36					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723339	30723339	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:30723339T>A	uc003gsk.1	+	0	1303	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PCDH7_uc011bxx.2_Missense_Mutation_p.C99S|PCDH7_uc021xnd.1_Missense_Mutation_p.C99S|PCDH7_uc021xnc.1_Missense_Mutation_p.C99S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	99	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCTGCCCCAGTGTCAGATGAT	0.602000													14	23					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362575	105362575	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:105362575C>T	uc010qqu.1	-	11	2212	c.2145G>A	c.(2143-2145)tcG>tcA	p.S715S	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.S607S|SH3PXD2A_uc010qqt.1_Silent_p.S649S|SH3PXD2A_uc009xxn.1_Silent_p.S607S|SH3PXD2A_uc001kxj.1_Silent_p.S772S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	800	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCAGCTCCGAATCCTCAC	0.637000													88	196					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611381	42611381	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:42611381T>C	uc003xpj.3	-	4	1317	c.961A>G	c.(961-963)Act>Gct	p.T321A	CHRNA6_uc011lcw.2_Missense_Mutation_p.T306A	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	321						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAACACAGTCACCACGATG	0.537000													6	98					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462205	72462205	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:72462205C>T	uc001jrg.3	+	2	660	c.660C>T	c.(658-660)gaC>gaT	p.D220D	ADAMTS14_uc001jrh.3_Silent_p.D220D	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	220					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGAACCTGACGGGGACCTGC	0.617000													4	65					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513865	45513865	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:45513865C>T	uc001wvw.3	+	12	4155	c.3946C>T	c.(3946-3948)Cgt>Tgt	p.R1316C	FAM179B_uc001wvv.3_Missense_Mutation_p.R1316C|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1316							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGAGTTTCTCGTGCTGCTGT	0.338000													11	40					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058503	97058503	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:97058503T>C	uc003pos.2	+	5	976	c.560T>C	c.(559-561)tTt>tCt	p.F187S	FHL5_uc003pot.2_Missense_Mutation_p.F187S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	187	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAAGAGTGTTTTCTGTGTAGT	0.448000													60	145					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23707241	23707241	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23707241G>A	uc002dma.4	-	13	1897	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	ERN2_uc010bxp.3_Silent_p.R524R	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	528	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCCTGCCCCGCGGCCCAGCA	0.637000													8	24					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506280	64506280	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64506280C>T	uc002anf.3	-	5	968	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.R163Q|CSNK1G1_uc002anh.1_Missense_Mutation_p.R163Q|CSNK1G1_uc002anj.3_Missense_Mutation_p.R145Q	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	163	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTGACATCTCGGTAAATGAG	0.383000													44	102					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577167	89577167	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89577167C>T	uc003hrw.1	+	8	1216	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	HERC3_uc003hrv.3_Silent_p.G350G|HERC3_uc011cdn.1_Silent_p.G232G|HERC3_uc011cdo.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCACAGTGGCCAGCTTTCAG	0.423000													9	70					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654830	28654830	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:28654830G>A	uc002kwl.4	-	11	2161	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	DSC2_uc002kwk.4_Silent_p.D569D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	569	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398000													15	27					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31538687	31538687	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:31538687C>T	uc003jhj.4	+	3	825	c.698C>T	c.(697-699)gCc>gTc	p.A233V	C5orf22_uc011cnw.1_Non-coding_Transcript|C5orf22_uc003jhk.4_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	233								p.A232S(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGACTGCTGCCAGCACTGGG	0.408000													9	27					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127462562	127462562	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:127462562G>A	uc001liu.3	-	1	535	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	179					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCAGCAGCCGCCAGCTCAGC	0.731000													9	18					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16143929	16143929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:16143929G>T	uc003nbq.3	+	5	900	c.663_splice	c.e5-1	p.R221_splice	MYLIP_uc003nbr.3_Splice_Site_p.R40_splice	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	221	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGTCTCTTAGGATAGCTTAT	0.453000													7	90					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32805336	32805336	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32805336T>C	uc011dqf.1	-	2	708	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	TAP2_uc003ocb.1_Missense_Mutation_p.M196V|TAP2_uc003occ.3_Missense_Mutation_p.M196V|TAP2_uc003ocd.3_Missense_Mutation_p.M196V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	196	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AAGAGGCACATGAAGAAGATG	0.493000													15	21					0	0	1	0	0
MGP	4256	broad.mit.edu	37	12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:15035143C>T	uc021qvr.1	-	4	445	c.317G>A	c.(316-318)cGc>cAc	p.R106H	MGP_uc001rcn.2_Missense_Mutation_p.R81H	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	81					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463000													13	208					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153913419	153913419	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:153913419C>T	uc001fdd.1	-	8	1688	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	429	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGTCTGGCCGCAGCGAGT	0.637000													7	15					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3525878	3525878	+	Missense_Mutation	SNP	C	C	T	rs150420576		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3525878C>T	uc010dtk.2	+	1	116	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	FZR1_uc002lxt.2_Missense_Mutation_p.R28W|FZR1_uc002lxv.2_Missense_Mutation_p.R28W	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	28					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGATGCGGCGGACCCT	0.662000													21	39					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373019	126373019	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:126373019G>A	uc003ifj.4	+	8	10848	c.10848G>A	c.(10846-10848)acG>acA	p.T3616T	FAT4_uc011cgp.2_Silent_p.T1914T|FAT4_uc003ifi.1_Silent_p.T1094T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3616	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3615L(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTCGGACGGTGGAGATAT	0.438000													6	98					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082852	11082852	+	Missense_Mutation	SNP	G	G	A	rs139037354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:11082852G>A	uc003jfa.1	-	15	2889	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	CTNND2_uc010itt.2_Missense_Mutation_p.A824V|CTNND2_uc011cmy.1_Missense_Mutation_p.A578V|CTNND2_uc011cmz.1_Missense_Mutation_p.A482V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A507V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	915					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTCCGCAGCGCAGTGGCCAC	0.512000													23	83					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464233	104464233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:104464233C>A	uc004ema.3	-	3	749	c.637G>T	c.(637-639)Gag>Tag	p.E213*	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.W215C	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	215						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCCCAGCCTCCACAGGGGGA	0.637000													17	9					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218614599	218614599	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:218614599C>T	uc001hlm.3	+	6	2508	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TGFB2_uc001hln.3_Silent_p.C408C|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	380					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.C380C(2)|p.C379S(1)|p.C408C(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408000													4	125					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161936	6161936	+	Silent	SNP	C	C	T	rs147033167		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6161936C>T	uc001qnn.1	-	15	2209	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P	VWF_uc010set.1_Silent_p.P653P	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	653	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCCTTTCGGGCAGTTCA	0.582000													9	18					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041173	87041173	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:87041173C>T	uc009wcs.3	+	10	1886	c.1842C>T	c.(1840-1842)taC>taT	p.Y614Y	CLCA4_uc009wct.3_Silent_p.Y377Y|CLCA4_uc009wcu.3_Silent_p.Y434Y	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	614						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		TGATTGTTTACGCAGAAATTC	0.398000													30	93					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566322	24566322	+	Missense_Mutation	SNP	G	G	A	rs112490159		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24566322G>A	uc001wlt.3	+	1	383	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	NRL_uc001wlp.3_5'Flank|NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.R84Q|PCK2_uc010tnw.2_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.R84*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCTCATCCGAAAGCTCCCC	0.547000													24	53					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2124953	2124953	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2124953G>C	uc003mtq.3	-	1	327	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	GMDS_uc021ykn.1_Missense_Mutation_p.L9V	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	39					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AACTCAGCCAGGTAGGAACCA	0.502000													9	14					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219525928	219525928	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219525928G>A	uc002vip.3	+	2	564	c.218G>A	c.(217-219)cGt>cAt	p.R73H	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.R73H|BCS1L_uc010fvu.3_Missense_Mutation_p.R73H|BCS1L_uc010fvv.3_Missense_Mutation_p.R73H|BCS1L_uc002vis.3_Missense_Mutation_p.R73H|BCS1L_uc021vwz.1_Missense_Mutation_p.R73H	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	73			R -> C (in MT-C3D).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGTACCCGTACTCAGCAC	0.537000													6	159					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905529	50905529	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50905529C>T	uc010eny.3	+	4	658	c.657C>T	c.(655-657)ctC>ctT	p.L219L	POLD1_uc002psb.4_Silent_p.L219L|POLD1_uc002psc.4_Silent_p.L219L|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	219					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCGCGCCTCGTGGCCCCGG	0.687000								DNA polymerases (catalytic subunits)					9	71					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10290659	10290659	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10290659C>T	uc003jes.3	-	2	666	c.215_splice	c.e2+1	p.T72_splice		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	72						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTTATACATACGTGTATCCAT	0.348000													30	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26741909	26741909	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26741909G>A	uc002rhk.3	-	3	423	c.296C>T	c.(295-297)aCg>aTg	p.T99M	OTOF_uc010ylb.1_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	99					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.T99M(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577000													4	6					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55193500	55193500	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:55193500G>A	uc010wnl.2	+	7	2592	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	AKAP1_uc002iux.3_Silent_p.A770A|AKAP1_uc021uak.1_Silent_p.A770A|AKAP1_uc010dcm.3_Silent_p.A770A	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	770	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTGGTGCGGACGGGGCCT	0.632000													21	26					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532632	100532632	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100532632G>A	uc004ehb.3	-	8	937	c.911C>T	c.(910-912)tCg>tTg	p.S304L	TAF7L_uc004eha.3_Missense_Mutation_p.S218L|TAF7L_uc004ehc.2_Missense_Mutation_p.S218L	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	304					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.S304S(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCATTCCCGAGGATATCAA	0.468000													5	133					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32142777	32142777	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:32142777G>A	uc001wrk.4	+	5	565	c.510G>A	c.(508-510)agG>agA	p.R170R	NUBPL_uc010amj.3_Non-coding_Transcript|NUBPL_uc010tpl.2_Silent_p.R74R	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	Homo sapiens nucleotide binding protein-like (NUBPL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTGTTGAGGCAGGTAAGAA	0.368000													5	67					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161191	22161191	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22161191G>A	uc009vqd.3	-	76	10744	c.10704C>T	c.(10702-10704)caC>caT	p.H3568H	HSPG2_uc001bfj.3_Silent_p.H3567H	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3567	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAGCAGGACGTGGGATTGTG	0.622000													16	29					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33577720G>A	uc002xbi.2	+	19	2208	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	589	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.G630G(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647000													14	33					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228557668	228557668	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228557668G>A	uc009xez.1	+	90	20037	c.19993G>A	c.(19993-19995)Ggc>Agc	p.G6665S	OBSCN_uc001hsr.1_Missense_Mutation_p.G1294S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6665	Protein kinase 1.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATTTGCCGGCGAGAGTGA	0.622000													16	52					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967875	87967875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:87967875G>A	uc011ccz.2	+	3	463	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	AFF1_uc011ccx.2_5'UTR|AFF1_uc003hqh.2_Missense_Mutation_p.R63Q|AFF1_uc011ccy.2_Missense_Mutation_p.R63Q|AFF1_uc003hqj.4_Missense_Mutation_p.R56Q|AFF1_uc003hqk.4_Missense_Mutation_p.R56Q|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	56						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGTCTAGTCGAATACAGAAC	0.373000													58	184					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363681	49363681	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49363681G>A	uc002pkx.3	-	5	953	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_uc010eml.3_Silent_p.A134A	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	134	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652000													30	76					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876764	54876764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:54876764C>T	uc002rxu.3	+	25	5464	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	SPTBN1_uc002rxx.3_Nonsense_Mutation_p.R1726*|SPTBN1_uc002rxy.3_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1739	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTACAAGAACGATTCCGGGA	0.498000													4	17					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310075	117310075	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:117310075G>A	uc001prh.1	-	22	4233	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1351	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCACTGCACGCAGCAGCAGT	0.607000													25	65					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285255	6285255	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6285255C>T	uc001amk.3	-	4	813	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ICMT_uc001aml.3_Missense_Mutation_p.R151Q	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	247					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCTGTTCGATCGCGGAA	0.522000													27	99					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186312	157186312	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:157186312C>T	uc002tyz.4	-	2	809	c.387G>A	c.(385-387)acG>acA	p.T129T	NR4A2_uc021vri.1_Silent_p.T129T|NR4A2_uc002tyx.4_Silent_p.T66T|NR4A2_uc010zcf.2_Silent_p.T129T|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	129	Gln-rich.|Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGTGGTGGGCGTCGGGGGCG	0.627000													44	112					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32500781	32500781	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32500781T>C	uc003amc.3	+	13	1924	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SLC5A1_uc011alz.2_Silent_p.R431R	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	558					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGCTCTACCGTCTGTGTTGGA	0.502000													12	39					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38829422	38829422	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:38829422G>A	uc003tgy.3	-	9	789	c.763C>T	c.(763-765)Cca>Tca	p.P255S	VPS41_uc003tgz.3_Missense_Mutation_p.P230S|VPS41_uc010kxn.3_Missense_Mutation_p.P166S	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	255					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TATCGACTTGGCAAATCCCTC	0.393000													29	72					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71883673	71883673	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:71883673G>A	uc010qjg.2	-	0	184	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AIFM2_uc021psi.1_Silent_p.S56S|AIFM2_uc001jqp.2_Silent_p.S56S	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	56					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602000													9	24					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219494309	219494309	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219494309G>A	uc021vwx.1	+	7	1381	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	PLCD4_uc002vik.1_3'UTR|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	348	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAACCTGTCGTTTACCACGG	0.592000													12	35					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692116	116692116	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:116692116G>A	uc001pps.1	-	2	762	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGCTGCGGCGCAGCTCCTCC	0.582000													6	188					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088126	43088126	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:43088126A>G	uc001jaf.1	-	4	2387	c.2272T>C	c.(2272-2274)Ttc>Ctc	p.F758L	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F646L|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	758						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTGAGAGAAGGTTTTCCTG	0.373000													4	155					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005666	20005666	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20005666G>A	uc001bcl.3	+	2	1595	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	376					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCTGCCGCCGGACTCAGATT	0.736000													6	15					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444729	49444729	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49444729C>T	uc001rta.4	-	9	2737	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	913	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGCAGCTCCTCGGGCAGAGGG	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			4	129					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181216	6181216	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6181216G>A	uc001amb.2	-	32	4972	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	CHD5_uc001alz.2_Missense_Mutation_p.R478W|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTGGCCGCTCCTCTCGG	0.662000													8	27					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18546946	18546946	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:18546946A>G	uc002kte.3	-	26	4225	c.3284T>C	c.(3283-3285)tTg>tCg	p.L1095S		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1095					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CGAGAGGTCCAAAAGTTTAGC	0.398000													9	109					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211239	37211239	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37211239G>A	uc010gwz.3	-	1	132	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_uc003apx.3_Silent_p.V34V	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527000													17	46					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62451122	62451122	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62451122C>T	uc003dll.2	-	25	3916	c.3556G>A	c.(3556-3558)Gtt>Att	p.V1186I	CADPS_uc003dlj.1_Missense_Mutation_p.V141I|CADPS_uc003dlk.1_Missense_Mutation_p.V634I|CADPS_uc003dlm.2_Missense_Mutation_p.V1147I|CADPS_uc003dln.2_Missense_Mutation_p.V1107I|CADPS_uc021wzv.1_Missense_Mutation_p.V1177I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1186	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.P1186P(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATAGTAACGAACTAGAAA	0.353000													32	77					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													5	13					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635352	83635352	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:83635352C>T	uc021pvc.1	+	0	283	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	NRG3_uc010qlz.1_Missense_Mutation_p.L86F|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.L86F|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	86					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTCATGCTTCTCAAATGGAT	0.612000													17	42					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029157	25029157	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:25029157G>A	uc001upl.3	-	21	2862	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I	PARP4_uc010tdc.2_Missense_Mutation_p.T919I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	919	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCACTCACCTGTGCCGAACTG	0.532000													44	97					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24807598	24807598	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24807598C>T	uc002zzw.3	+	14	3433	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L_uc002zzv.4_Silent_p.L1044L|SPECC1L_uc011ajq.2_Intron|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_Silent_p.L110L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	1044	CH.				cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493000													13	114					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597179	38597179	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38597179G>A	uc002ohk.3	+	6	2541	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	678	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTTCAGCCGACTCCACGGG	0.507000													26	87					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795695	69795695	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:69795695G>T	uc003hef.2	-	5	1451	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	474						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGATCGCAGGTGCTTGGCT	0.488000													41	91					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45740517	45740517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:45740517G>A	uc003bgc.3	-	24	3680	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	SMC1B_uc003bgd.3_Nonsense_Mutation_p.R1136*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1210					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCAAAACTCGGCTGAACATG	0.448000													51	104					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:71861684C>T	uc004ahe.3	+	17	2963	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_uc011lrs.2_Missense_Mutation_p.A859V|TJP2_uc011lrt.1_Missense_Mutation_p.A859V|TJP2_uc004ahd.3_Missense_Mutation_p.A882V|TJP2_uc004ahf.3_Missense_Mutation_p.A882V|TJP2_uc011lru.2_Missense_Mutation_p.A886V|TJP2_uc011lrv.2_Missense_Mutation_p.A913V|TJP2_uc010mom.1_Missense_Mutation_p.A42V	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418000													18	69					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55984794	55984794	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55984794G>A	uc003has.3	-	2	637	c.335C>T	c.(334-336)tCg>tTg	p.S112L	KDR_uc003hat.1_Missense_Mutation_p.S112L|KDR_uc011bzx.2_Missense_Mutation_p.S112L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	112					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGACCGAGGCCAAGTC	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	59					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408260	50408260	+	Silent	SNP	G	G	A	rs141546409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50408260G>A	uc002xwh.4	-	1	863	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SALL4_uc010gii.3_Silent_p.A254A|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	254					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGAGTGTCGGCCCCTGCCC	0.602000													19	48					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008242	120008242	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:120008242G>A	uc001pwz.3	-	0	622	c.498C>T	c.(496-498)tcC>tcT	p.S166S	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	166					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTCGGAGCCGGACTTGGACC	0.657000													5	125					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170044	214170044	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214170044T>C	uc001hkh.3	+	1	438	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	PROX1_uc001hkg.1_Missense_Mutation_p.Y56H	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	56					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGATGTTGAGTATTCAGTGGT	0.478000													6	85					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366442	248366442	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248366442A>G	uc010pzg.2	+	0	73	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H24Q(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCACCCACACCTTCCTCTT	0.512000													104	246					0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:72419582G>A	uc003kcm.2	+	1	586	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_uc003kcn.3_Missense_Mutation_p.V128I	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587000													6	162					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32234677	32234677	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32234677C>T	uc011alu.2	+	26	2563	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	DEPDC5_uc011als.2_Silent_p.D709D|DEPDC5_uc003als.3_Silent_p.D778D|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.D778D|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.D227D|DEPDC5_uc011alw.1_Silent_p.D108D|DEPDC5_uc003alw.3_Silent_p.D76D|DEPDC5_uc011alx.2_5'UTR	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	778					intracellular signal transduction			p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483000													34	81					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788607	39788607	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39788607C>T	uc021olt.1	+	31	4230	c.4178C>T	c.(4177-4179)aCg>aTg	p.T1393M	MACF1_uc021ols.1_Missense_Mutation_p.T1393M|MACF1_uc001cdc.2_Missense_Mutation_p.T1393M|MACF1_uc001cda.1_Missense_Mutation_p.T1301M|MACF1_uc009vvq.1_Missense_Mutation_p.T450M|MACF1_uc001cdb.1_Missense_Mutation_p.T480M	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1393					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCGCTACACGGCATTGGTG	0.418000													9	226					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274164	80274164	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80274164C>T	uc002kel.1	-	2	628	c.519G>A	c.(517-519)ccG>ccA	p.P173P	CD7_uc010din.3_Silent_p.P173P|CD7_uc010wvk.1_3'UTR	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	173	4 X 9 AA tandem repeats, potential spacer function.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGGCTGCTGGCGGGTCAGGGA	0.716000													3	9					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134802	100134802	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:100134802C>T	uc003huo.2	-	2	317	c.223G>A	c.(223-225)Gtt>Att	p.V75I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.V75I|ADH6_uc010ile.3_Missense_Mutation_p.V75I	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	75					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATACTCTCAACGATTCCAGCC	0.478000													22	66					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:58306166G>A	uc002aex.3	-	2	526	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R64C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R85C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R56C|ALDH1A2_uc002aew.3_5'UTR	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498000													86	227					0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167396	18167396	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18167396C>T	uc010vxq.2	+	3	742	c.716C>T	c.(715-717)aCg>aTg	p.T239M	SMCR7_uc002gsu.3_Silent_p.D203D|SMCR7_uc002gst.3_Missense_Mutation_p.T228M	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	228						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GTGCGCAGGACGCAGCTTGAG	0.716000													4	6					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324290	9324290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:9324290C>T	uc001apt.3	+	4	2011	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	580	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCGAGCCGTGCGGCGCTTTGG	0.677000													11	23					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557710	61557710	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61557710C>T	uc002jau.2	+	4	702	c.668C>T	c.(667-669)aCg>aTg	p.T223M	ACE_uc010wpi.2_Missense_Mutation_p.T223M|ACE_uc010ddu.2_Missense_Mutation_p.T40M	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	223	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.D222Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTCACAGACACGGGGGCCTAC	0.612000													19	44					0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348186	91348186	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:91348186A>G	uc001tbj.3	-	0	768	c.334T>C	c.(334-336)Tat>Cat	p.Y112H		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	112										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCAGGCCATACACCCGAAAC	0.662000													14	40					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889133	147889133	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:147889133C>T	uc021yfj.1	-	4	1009	c.962G>A	c.(961-963)cGt>cAt	p.R321H	HTR4_uc021yfg.1_Missense_Mutation_p.R321H|HTR4_uc021yfh.1_Missense_Mutation_p.R321H|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.R321H|HTR4_uc011dby.1_Missense_Mutation_p.R321H|HTR4_uc003lpn.3_Missense_Mutation_p.R321H|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.R321H	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	321					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAGGAAGGCACGTCTAAAAGA	0.502000													20	54					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189723	26189723	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26189723C>T	uc021ojm.1	-	0	608	c.608G>A	c.(607-609)cGc>cAc	p.R203H	PAQR7_uc001bkx.3_Missense_Mutation_p.R203H	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	203					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCATGTGCGGCCCAGCAG	0.582000													27	58					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22415670	22415670	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22415670G>A	uc003xbv.3	+	4	783	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	SORBS3_uc011kzk.1_Non-coding_Transcript	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	148	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACTGGTACCGGAGAATGTTC	0.517000													26	80					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569644	99569644	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99569644C>A	uc003dtm.3	-	4	1339	c.876G>T	c.(874-876)gaG>gaT	p.E292D	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.E292D|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.E52D|FILIP1L_uc003dtn.3_Missense_Mutation_p.E52D|FILIP1L_uc021xbr.1_Missense_Mutation_p.E52D|FILIP1L_uc003dtp.1_Missense_Mutation_p.E52D	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	292						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCAGTTCCTTCTCTAGTCTGG	0.463000													98	265					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3189816	3189816	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:3189816C>T	uc009xhv.2	-	18	2255	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	PITRM1_uc001igr.2_Missense_Mutation_p.R728Q|PITRM1_uc001igt.2_Missense_Mutation_p.R728Q|PITRM1_uc010qah.2_Missense_Mutation_p.R630Q|PITRM1_uc001igu.1_Missense_Mutation_p.R654Q|PITRM1_uc010qai.2_Missense_Mutation_p.R699Q|LOC100507034_uc001igv.2_Non-coding_Transcript	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	630					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGAGGGTCCGGCCTGCCCT	0.582000													46	150					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927206	111927206	+	Missense_Mutation	SNP	C	C	T	rs142600000		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111927206C>T	uc003dyu.3	-	15	2027	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.R554H	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R602H(1)									ATGGCATATACGAAAAAAGAA	0.274000													5	68					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131832160	131832160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131832160C>T	uc004bxa.3	+	14	1677	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc004bxb.3_Silent_p.S73S	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	497						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ATTTCTACTCCGTATCGGAGC	0.592000													73	156					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:112708216C>T	uc021reb.1	-	11	1954	c.1558G>A	c.(1558-1560)Gtt>Att	p.V520I	C12orf51_uc010syk.1_Missense_Mutation_p.V55I|C12orf51_uc001tts.2_Missense_Mutation_p.V55I|C12orf51_uc001ttt.3_Missense_Mutation_p.V55I	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.V482I(1)|p.V232I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ATCGCACCAACGTGGTGCAAT	0.448000													5	229					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190117	233190117	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:233190117G>A	uc001hvl.2	-	24	4483	c.4248C>T	c.(4246-4248)ggC>ggT	p.G1416G	PCNXL2_uc001hvk.1_Silent_p.G68G|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1416						integral to membrane				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)				TAAAGCAATCGCCAGAGCTGT	0.443000													11	36					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107641	20107641	+	Silent	SNP	C	C	T	rs35939758		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:20107641C>T	uc003wzr.3	-	2	1494	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	LZTS1_uc010ltg.2_Silent_p.A461A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	461					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			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)		GCAGCAGCTCCGCCTCGTTCT	0.701000													61	149					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227710	10227710	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10227710C>T	uc003jeo.2	-	4	574	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.R165Q	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	182						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATAACTCGTGCATCATC	0.478000													18	43					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182315	140182315	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182315C>T	uc003lhf.2	+	0	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.H511H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	525	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTACACGCGGAGAGCG	0.706000													62	185					0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520231	131520231	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:131520231C>T	uc021voy.1	+	0	586	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	FAM123C_uc002trw.2_Missense_Mutation_p.R196W|FAM123C_uc010fmv.2_Missense_Mutation_p.R196W|FAM123C_uc010fms.1_Missense_Mutation_p.R196W|FAM123C_uc010fmt.1_Missense_Mutation_p.R196W|FAM123C_uc010fmu.1_Missense_Mutation_p.R196W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	196										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCCTGGGGGGCGGCGAAGCAA	0.672000													23	55					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056913	73056913	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:73056913C>T	uc001sxa.3	+	18	3043	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1005					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCCAATGTGCGCTGGAAAAT	0.383000													15	36					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77150899	77150899	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:77150899C>T	uc004fof.3	-	0	167	c.105G>A	c.(103-105)gcG>gcA	p.A35A	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Silent_p.A35A	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	3					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGCCAACGCGCTGCCATGT	0.567000													16	6					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083533	136083533	+	Silent	SNP	G	G	A	rs138653366	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136083533G>A	uc004ccz.3	-	2	306	c.264C>T	c.(262-264)ggC>ggT	p.G88G	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Silent_p.G20G	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	88					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGCTGTATTTGCCAGGCTCCT	0.647000													11	30					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894441	166894441	+	Missense_Mutation	SNP	G	G	A	rs121918788		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:166894441G>A	uc002udo.4	-	16	3018	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	SCN1A_uc010fpk.3_Missense_Mutation_p.R903C|SCN1A_uc021vsb.1_Missense_Mutation_p.R920C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	931			R -> C (in SMEI; dbSNP:rs121918788).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGTGCCAGCGTGGGAGTTGA	0.512000													61	152					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45802622	45802622	+	Missense_Mutation	SNP	C	C	T	rs146431153	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45802622C>T	uc010gpt.1	+	8	1337	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TRPM2_uc002zet.1_Missense_Mutation_p.R413W|TRPM2_uc002zeu.1_Missense_Mutation_p.R413W|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R413W|TRPM2_uc002zex.1_Missense_Mutation_p.R199W	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	413						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCCGGAGGCGGCAGCTGCT	0.552000													13	20					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321480	154321480	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154321480G>A	uc001fex.3	+	27	3558	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1172					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTCTCGCGCTCTCCAGCT	0.642000													16	41					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2751998	2751998	+	Missense_Mutation	SNP	C	C	T	rs149900602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2751998C>T	uc003smr.1	+	6	1344	c.983C>T	c.(982-984)aCg>aTg	p.T328M	AMZ1_uc003sms.1_Silent_p.D271D|AMZ1_uc011jwa.1_Missense_Mutation_p.T77M	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	328							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGTGGGGACGTGGCCCAGC	0.662000													10	17					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215169	3215169	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3215169C>T	uc002klp.3	-	1	387	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MYOM1_uc002klq.3_Missense_Mutation_p.R18H	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	18						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCCTTGTTGCGGTAGCTGAG	0.577000													3	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580189	82580189	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82580189G>A	uc003uhx.2	-	5	10004	c.9715C>T	c.(9715-9717)Cgt>Tgt	p.R3239C	PCLO_uc003uhv.2_Missense_Mutation_p.R3239C|PCLO_uc010lec.3_Missense_Mutation_p.R204C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3170	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCTGACGTTCCCACTCC	0.448000													31	75					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72141383	72141383	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72141383C>T	uc001osj.3	-	1	478	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CLPB_uc010rqx.2_Silent_p.P62P|CLPB_uc010rqy.2_Missense_Mutation_p.R143H|CLPB_uc001osk.3_Missense_Mutation_p.R143H|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	143					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATTGTTGGCACGGGCAGCTTC	0.587000													5	19					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101486760	101486760	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101486760G>A	uc001kqb.4	-	3	1164	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	COX15_uc001kqc.4_Missense_Mutation_p.R183C|COX15_uc010qpj.2_Missense_Mutation_p.R4C	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAAGAACACGTCCTTTCATG	0.517000													11	51					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890023	139890023	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:139890023G>A	uc003yvd.3	-	2	1075	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTTGCCCCGGATCTTGTCG	0.667000										HNSCC(7;0.00092)			18	51					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2280072	2280072	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2280072C>T	uc002fum.4	+	19	2832	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	SGSM2_uc002fun.4_Silent_p.C840C|SGSM2_uc010vqw.2_Silent_p.C840C|SGSM2_uc002fuq.3_Silent_p.C2C	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	840	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632000													63	156					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119249669	119249669	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119249669A>T	uc004bjt.2	-	18	3414	c.3313T>A	c.(3313-3315)Ttc>Atc	p.F1105I	ASTN2_uc022bml.1_Missense_Mutation_p.F801I|ASTN2_uc022bmm.1_Missense_Mutation_p.F805I|ASTN2_uc004bjp.2_Missense_Mutation_p.F257I|ASTN2_uc011lxr.2_Missense_Mutation_p.F208I|ASTN2_uc011lxs.2_Missense_Mutation_p.F208I|ASTN2_uc011lxt.2_Missense_Mutation_p.F208I|ASTN2_uc004bjq.2_Missense_Mutation_p.F208I	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1156	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACACTTGAAGATGACTGAG	0.498000													33	83					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400076	90400076	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90400076C>T	uc021opq.1	+	0	1449	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_uc001dnm.3_Silent_p.P483P|LRRC8D_uc001dnn.3_Silent_p.P483P	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468000													20	55					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455621	62455621	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:62455621G>A	uc021qkm.1	-	0	360	c.360C>T	c.(358-360)gaC>gaT	p.D120D	LRRN4CL_uc001nun.3_Silent_p.D120D	NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	Homo sapiens LRRN4 C-terminal like (LRRN4CL), mRNA.	120	Fibronectin type-III.					integral to membrane		p.D120D(2)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657000													13	34					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799939	89799939	+	Missense_Mutation	SNP	G	G	A	rs141797932		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89799939G>A	uc002fos.4	+	7	1427	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	ZNF276_uc010ciq.3_Missense_Mutation_p.V230M|ZNF276_uc002foq.4_Missense_Mutation_p.V369M|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.V230M|ZNF276_uc010cis.3_Missense_Mutation_p.V203M|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.V282M|ZNF276_uc010cit.2_Missense_Mutation_p.V203M	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S444L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGCACGGCCGTGTACCGAGG	0.642000													44	78					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134118636	134118636	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:134118636G>T	uc003kzw.3	+	9	1214	c.1046_splice	c.e9-1	p.E349_splice	DDX46_uc003kzv.1_Splice_Site	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	349					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTGTAGAGGTAAATGTGT	0.343000													8	64					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002728	122002728	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122002728G>A	uc003eew.4	+	6	2395	c.1957G>A	c.(1957-1959)Gtc>Atc	p.V653I	CASR_uc003eev.4_Missense_Mutation_p.V643I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	643					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACACCCATTGTCAAGGCCAC	0.577000													21	69					0	0	1	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177651532	177651532	+	Missense_Mutation	SNP	G	G	A	rs141643431		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:177651532G>A	uc003miz.3	-	5	787	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.R138W|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.R37W	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	179						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGGTCCTCCCGGTAGGGGCCC	0.632000													19	48					0	0	1	0	0
BCL2A1	597	broad.mit.edu	37	15	80263148	80263148	+	Missense_Mutation	SNP	C	C	T	rs138123718		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:80263148C>T	uc002bfc.4	-	0	496	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	BCL2A1_uc002bfd.4_Missense_Mutation_p.R105Q	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.	105					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATTTGCTGTCGTAGAAGTTT	0.388000													68	122					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2573008	2573008	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2573008C>T	uc002kli.3	+	1	206	c.24C>T	c.(22-24)agC>agT	p.S8S	METTL4_uc002klh.4_5'Flank	NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	8	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTTTCCAGCGGTGGTGCTG	0.428000													4	48					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25472047	25472047	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:25472047G>A	uc002wux.1	-	10	1499	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	NINL_uc010gdn.1_Silent_p.D475D|NINL_uc010gdo.1_Silent_p.D258D|NINL_uc010ztf.1_Silent_p.D491D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	475					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCGCCCCACGTCCCACTCCA	0.701000													35	67					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44858060	44858060	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:44858060A>G	uc001ztx.3	-	37	7022	c.6991T>C	c.(6991-6993)Ttc>Ctc	p.F2331L	SPG11_uc010bdw.3_Missense_Mutation_p.F461L|SPG11_uc010ueh.2_Missense_Mutation_p.F2218L|SPG11_uc010uei.2_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2331					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGGTAGAACCGAGGTAGG	0.517000													6	27					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207425854	207425854	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207425854G>A	uc002vbq.3	+	11	1395	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	391	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		TTCTTAAGGCGGGTGACATTT	0.428000													3	54					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108863523	108863523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:108863523G>A	uc001vqn.3	-	1	367	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LIG4_uc001vqo.3_Missense_Mutation_p.R32C|LIG4_uc010agf.3_Missense_Mutation_p.R32C|LIG4_uc001vqp.3_Missense_Mutation_p.R32C|LIG4_uc010agg.1_5'UTR|LIG4_uc021rmk.1_Missense_Mutation_p.R32C	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	32					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCTGCACGTCCTTTACTT	0.373000								Non-homologous end-joining					14	41					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321377	141321377	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141321377G>A	uc003yvh.2	-	9	1901	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L	TRAPPC9_uc003yvj.2_Missense_Mutation_p.P531L|TRAPPC9_uc003yvi.1_Missense_Mutation_p.P522L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	531					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAAGGGCACCGGTGGCAGGGT	0.587000													23	53					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651973	36651973	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:36651973G>A	uc021yzb.1	+	2	197	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CDKN1A_uc021yzc.1_Missense_Mutation_p.R32H|CDKN1A_uc011dtq.2_Missense_Mutation_p.R66H|CDKN1A_uc003omm.4_Missense_Mutation_p.R32H|CDKN1A_uc003omn.3_Missense_Mutation_p.R32H	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	32					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGCTGAGCCGCGACTGTGAT	0.652000													17	41					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117870A>G	uc010ouo.2	+	17	2608	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_uc001duq.3_Missense_Mutation_p.M302V|AMY2B_uc001dur.3_Missense_Mutation_p.M302V|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418000													8	407					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327915	112327915	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:112327915T>C	uc003kqh.3	+	2	527	c.303T>C	c.(301-303)ggT>ggC	p.G101G	DCP2_uc010jcc.3_Silent_p.G101G|DCP2_uc011cwa.2_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	101	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAACATATGGTGCAATTATTC	0.328000													23	76					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208512	58208512	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:58208512G>T	uc001vhq.1	+	0	2724	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L	PCDH17_uc010aec.1_Missense_Mutation_p.R611L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	611	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)		AGCACTGTGCGCGCCCTAGAC	0.662000													4	86					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130278	187130278	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:187130278C>T	uc003iyw.4	+	9	1561	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	419					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACTGAAGCCGTCATCATTC	0.502000													6	133					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234628	23234628	+	Silent	SNP	C	C	T	rs141632768		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:23234628C>T	uc009vqj.1	+	11	2464	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	EPHB2_uc001bge.3_Silent_p.D774D|EPHB2_uc001bgf.3_Silent_p.D773D|EPHB2_uc010odu.2_Silent_p.D715D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	773	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTAGAGGACGATACCTCAG	0.567000													23	62					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17766855G>A	uc021uqk.1	-	9	1162	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652000													3	7					0	0	1	0	0
C1orf123	54987	broad.mit.edu	37	1	53681698	53681698	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:53681698C>T	uc001cvd.3	-	6	412	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	Homo sapiens chromosome 1 open reading frame 123 (C1orf123), mRNA.	124								p.G124V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AAGGCTGTCCCTGACTCCACA	0.517000													39	107					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95766401	95766401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95766401C>T	uc004asz.2	+	4	1190	c.662C>T	c.(661-663)aCg>aTg	p.T221M	FGD3_uc004asw.2_Missense_Mutation_p.T221M|FGD3_uc004asx.2_Missense_Mutation_p.T221M|FGD3_uc004ata.3_Missense_Mutation_p.T24M	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	221	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGCTGAAGACGCGGATCACG	0.587000											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	83					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43693446	43693446	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43693446C>T	uc011aev.2	+	3	545	c.471C>T	c.(469-471)aaC>aaT	p.N157N	ABCG1_uc002zam.3_Silent_p.N124N|ABCG1_uc002zan.3_Silent_p.N148N|ABCG1_uc002zao.3_Silent_p.N143N|ABCG1_uc002zap.3_Silent_p.N146N|ABCG1_uc002zaq.3_Silent_p.N146N|ABCG1_uc002zar.3_Silent_p.N157N	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	146	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCCTCATCAACGGCCTGCCCC	0.652000													6	129					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19666098	19666098	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:19666098A>G	uc010ocz.2	-	8	1260	c.832T>C	c.(832-834)Ttt>Ctt	p.F278L	CAPZB_uc001bce.3_Missense_Mutation_p.F249L|CAPZB_uc021ohr.1_3'UTR|CAPZB_uc009vpk.3_Missense_Mutation_p.F249S	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	249					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGTCTGCAAAAGTCTGCACA	0.522000													7	203					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676558	63676558	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63676558C>T	uc001nxw.3	+	18	2795	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	MARK2_uc001nxv.4_Missense_Mutation_p.T675M|MARK2_uc001nxx.3_Missense_Mutation_p.T670M|MARK2_uc001nxy.3_Missense_Mutation_p.T660M|MARK2_uc001nxz.4_Missense_Mutation_p.T696M|MARK2_uc009yoy.3_Missense_Mutation_p.T650M	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	739	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGCACGGCACGCCGGGCCAC	0.612000													4	100					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5245857	5245857	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:5245857C>T	uc002mbv.3	-	9	1152	c.918G>A	c.(916-918)tcG>tcA	p.S306S	PTPRS_uc002mbu.1_Silent_p.S293S|PTPRS_uc010xin.2_Silent_p.S293S|PTPRS_uc002mbw.3_Silent_p.S293S|PTPRS_uc002mbx.3_Silent_p.S297S|PTPRS_uc002mby.3_Silent_p.S293S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	306	Ig-like C2-type 3.				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)		TGTAGTTGGCCGAGTCCTTGA	0.617000													7	27					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1720558	1720558	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1720558G>T	uc001aif.3	-	9	1213	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	GNB1_uc009vky.3_Missense_Mutation_p.L184I	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	284					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCAAGGAGGAGGCGCCCGCTC	0.577000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68822732	68822732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68822732G>A	uc001oos.2	+	3	457	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.R114H|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	114					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	p.R114S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCGCTACCGCGCTGCTCCC	0.622000													39	93					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6314755	6314755	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6314755G>A	uc001amp.2	-	1	471	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	71						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGGCGCTGCCGCCGCAGCTGC	0.612000													46	106					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:8126004G>A	uc003srk.3	+	7	2039	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	494								p.T493T(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552000													38	408					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766738	77766738	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:77766738G>A	uc003yau.2	+	9	7968	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_uc003yaw.1_Silent_p.P2482P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2526R(1)|p.N2527H(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)			TTCACTCTCCGTTCTTGGAAA	0.507000										HNSCC(33;0.089)			8	214					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226334447C>T	uc001hpy.3	-	7	1498	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	484	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473000													5	138					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839616	150839616	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839616C>T	uc003wjg.1	+	15	2171	c.2168C>T	c.(2167-2169)cCg>cTg	p.P723L	AGAP3_uc003wje.1_Missense_Mutation_p.P392L|AGAP3_uc003wjj.1_Missense_Mutation_p.P222L|AGAP3_uc003wjk.1_Missense_Mutation_p.P141L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	687	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.W722R(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATGACTGGCCGCCTGAGCTG	0.652000													22	67					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7928473	7928473	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7928473C>T	uc010xjz.2	+	18	2350	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L	EVI5L_uc002min.3_Missense_Mutation_p.P757L	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	757						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTGTCCCCGCGCGATGCG	0.697000													6	2					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74605228	74605228	+	Missense_Mutation	SNP	C	C	T	rs74768853		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:74605228C>T	uc002skx.3	-	1	496	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	DCTN1_uc002skw.2_Missense_Mutation_p.V60M|DCTN1_uc010ffd.3_Missense_Mutation_p.V60M|DCTN1_uc002sky.3_Missense_Mutation_p.V43M	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	60	CAP-Gly.				G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.G59G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGAATCACGCCTACCCAT	0.532000													18	59					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069851	29069851	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:29069851C>T	uc021okf.1	+	4	1332	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	YTHDF2_uc001brc.3_Missense_Mutation_p.R357C|YTHDF2_uc010ofx.2_Missense_Mutation_p.R307C|YTHDF2_uc001bre.3_Missense_Mutation_p.R307C	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	357					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGGAACCGTGGCAGTGG	0.582000													7	178					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121596512	121596512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:121596512G>A	uc001ler.2	-	12	1742	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	MCMBP_uc001leq.1_Missense_Mutation_p.L307F|MCMBP_uc001les.1_Missense_Mutation_p.L307F	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	482					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	p.L482F(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CACGTTATGAGGTTGCTCAGG	0.433000													22	69					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792012	792012	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:792012G>A	uc001lri.3	-	9	1259	c.875C>T	c.(874-876)gCg>gTg	p.A292V	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.3_Missense_Mutation_p.A292V|SLC25A22_uc001lrj.3_Missense_Mutation_p.A292V	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	292						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GATGACCAGCGCGCGGCAGTA	0.692000													4	18					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38652182	38652182	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:38652182C>T	uc003ooc.3	-	2	398	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006708	NP_006699	Q04760	LGUL_HUMAN	Homo sapiens glyoxalase I (GLO1), mRNA.	92					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTCTGGAGAGCGCCCAGGCTA	0.303000													7	18					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14677003	14677003	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14677003G>A	uc002mzg.3	-	2	433	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	119					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	CAACTCTGCCGCCTTCTTCTC	0.627000													12	31					0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35743007	35743007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35743007G>A	uc021wis.1	+	0	230	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	KCNE2_uc002ytt.1_Missense_Mutation_p.R77Q	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	77			R -> W (in LQT6).		blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TCCAAGAGACGGGAACACTCC	0.463000													17	43					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132319	153132319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153132319C>T	uc004fjb.3	-	17	2324	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	L1CAM_uc004fjc.3_Missense_Mutation_p.R739Q|L1CAM_uc010nuo.3_Missense_Mutation_p.R734Q	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	739	Fibronectin type-III 2.		R -> W.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATCCACCGGAGCGGCTG	0.642000													24	10					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:48947629G>A	uc001vcb.3	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	405	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	66					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087429	39087429	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:39087429C>T	uc011aej.1	-	2	84	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	KCNJ6_uc002ywo.2_Missense_Mutation_p.V11I	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	11					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCTCCAGGACGTTAGCTGGT	0.517000													8	29					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431763	140431763	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140431763C>T	uc003lik.1	+	0	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	236	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N236N(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)			TGGATGTCAACGACCACGTGC	0.597000													7	19					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133254166	133254166	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133254166C>T	uc001uks.1	-	6	762	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.V213M	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	240					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|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|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)		CCACTCACCACGTGGATCTTC	0.498000								DNA polymerases (catalytic subunits)					14	33					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772753	113772753	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113772753G>A	uc001vsv.3	+	8	883	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F7_uc001vsw.3_Missense_Mutation_p.G256R|F7_uc010tjt.2_Missense_Mutation_p.G209R	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	278	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACGGGGATGAGCA	0.687000													37	98					0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140762	1140762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1140762delC	uc001add.3	-	1	436	c.298delG	c.(298-300)gtafs	p.V100fs	TNFRSF18_uc001ada.3_Frame_Shift_Del_p.V28fs|TNFRSF18_uc001adb.3_Frame_Shift_Del_p.V100fs|TNFRSF18_uc001adc.3_Frame_Shift_Del_p.V100fs	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	100					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGACTGTACCCCCTGGCCT	0.657													9	26	---	---	---	---					
TNFRSF4	7293	broad.mit.edu	37	1	1147441	1147441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1147441delG	uc001adf.3	-	3	1125	c.527delC	c.(526-528)ccafs	p.P176fs	TNFRSF4_uc001ade.3_Frame_Shift_Del_p.P172fs			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	172					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCGTGGCTGGGGGGTCCCT	0.677													12	34	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:16259480delC	uc001axk.1	+	10	6949	c.6745delC	c.(6745-6747)cccfs	p.P2249fs	SPEN_uc010obp.1_Frame_Shift_Del_p.P2208fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2249	Interaction with MSX2 (By similarity).|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTGCAACCCCCCGCAGG	0.557													47	159	---	---	---	---					
TMCO4	255104	broad.mit.edu	37	1	20009647	20009650	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20009647_20009650delAGGA	uc001bcn.3	-	15	2030_2033	c.1788_1791delTCCT	c.(1786-1791)cttcctfs	p.L596fs	TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	596						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCAGCAGCAGGAAGGGAGGCCC	0.647													23	99	---	---	---	---					
KIF17	57576	broad.mit.edu	37	1	21014273	21014273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:21014273delG	uc001bdr.4	-	7	1664	c.1546delC	c.(1546-1548)cagfs	p.Q516fs	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Frame_Shift_Del_p.Q516fs	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	516					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGAAACCTGAGTCTTGGAG	0.542													14	137	---	---	---	---					
HSPG2	3339	broad.mit.edu	37	1	22169275	22169275	+	Frame_Shift_Del	DEL	G	G	-	rs149203308		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22169275delG	uc009vqd.3	-	66	8941	c.8901delC	c.(8899-8901)cccfs	p.P2967fs	HSPG2_uc001bfj.3_Frame_Shift_Del_p.P2966fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2966	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGCCGGGCGGGGAGGCTGC	0.617													8	101	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33233495delC	uc001bvu.1	+	1	387	c.343delC	c.(343-345)cccfs	p.P115fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.P67fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.P56fs|KIAA1522_uc010ohn.1_Frame_Shift_Del_p.P56fs	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612													28	90	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39906934	39906935	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39906934_39906935delAG	uc021olw.1	+	38	13938_13939	c.13938_13939delAG	c.(13936-13941)aaagagfs	p.K4646fs	MACF1_uc021ols.1_Frame_Shift_Del_p.K4141fs|MACF1_uc021olt.1_Frame_Shift_Del_p.K4144fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6212					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATGGAAAGAGAGGCTAGA	0.441													30	107	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:43772910delC	uc001ciu.3	+	4	915	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_uc010okd.2_Frame_Shift_Del_p.C246fs|TIE1_uc010oke.2_Frame_Shift_Del_p.C201fs|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Frame_Shift_Del_p.C246fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	246	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632													28	86	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46543215	46543215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:46543215delT	uc010olw.2	-	2	441	c.424delA	c.(424-426)atgfs	p.M142fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M96fs|PIK3R3_uc009vyb.3_Frame_Shift_Del_p.M96fs|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M113fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M96fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	96	SH2 1.				T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCTCCCTGCATTTTTGTTGAG	0.383													9	119	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C	rs145046312		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:75038828_75038829insC	uc001dgg.3	-	13	2784_2785	c.2565_2566insG	c.(2563-2568)gggtcafs	p.G855fs		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	855	Glu-rich.							p.G854W(1)		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						ATGGGGTCTGACCCCCCTTCAC	0.530													16	176	---	---	---	---					
LPHN2	23266	broad.mit.edu	37	1	82408815	82408817	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:82408815_82408817delCTT	uc001dit.4	+	5	741_743	c.560_562delCTT	c.(559-564)gcttct>gct	p.S188del	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_In_Frame_Del_p.S188del|LPHN2_uc001div.3_In_Frame_Del_p.S188del|LPHN2_uc009wcd.3_In_Frame_Del_p.S188del	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	188	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S188F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATAGAATATGCTTCTTTAGAAGA	0.409													31	66	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:92511122delG	uc001don.2	+	3	613	c.509delG	c.(508-510)tggfs	p.W170fs		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388													8	105	---	---	---	---					
FAM102B	284611	broad.mit.edu	37	1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109103056_109103058delGAA	uc010ouy.2	+	0	86_88	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.640													9	27	---	---	---	---					
NBPF7	343505	broad.mit.edu	37	1	120377452	120377452	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:120377452delT	uc010oxk.2	-	7	1823	c.1202delA	c.(1201-1203)aacfs	p.N401fs		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	401						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		GCTGTTGTAGTTTTTTTCATC	0.388													42	102	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156917732	156917733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156917732_156917733insG	uc001fqo.3	-	23	3089_3090	c.2049_2050insC	c.(2047-2052)cccagtfs	p.P683fs	ARHGEF11_uc010phu.2_Frame_Shift_Ins_p.P99fs|ARHGEF11_uc001fqn.3_Frame_Shift_Ins_p.P723fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	683					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.A683A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCCAAACTGGGGGACTCAA	0.574													14	30	---	---	---	---					
TBX19	9095	broad.mit.edu	37	1	168282117	168282117	+	Frame_Shift_Del	DEL	G	G	-	rs149058755		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:168282117delG	uc001gfl.3	+	7	1275	c.1224delG	c.(1222-1224)ctgfs	p.L408fs	TBX19_uc001gfj.4_Frame_Shift_Del_p.L276fs|TBX19_uc001gfm.3_Frame_Shift_Del_p.L111fs	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	408					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGGAGGTTCTGGGGGAGCCCT	0.642													20	52	---	---	---	---					
ARPC5	10092	broad.mit.edu	37	1	183602245	183602245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183602245delG	uc001gql.3	-	1	379	c.188delC	c.(187-189)cctfs	p.P63fs	RGL1_uc010pof.1_5'Flank|RGL1_uc001gqm.3_5'Flank|RGL1_uc010pog.2_5'Flank|RGL1_uc010poh.2_5'Flank|ARPC5_uc021pgb.1_Frame_Shift_Del_p.P13fs	NM_005717	NP_005708	O15511	ARPC5_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5, 16kDa (ARPC5), mRNA.	63					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						GGTGTTGATAGGGGGGTTCTT	0.468													51	187	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215793922delA	uc001hks.3	+	17	2704	c.2410delA	c.(2410-2412)aaafs	p.K804fs	KCTD3_uc001hkt.3_Frame_Shift_Del_p.K802fs|KCTD3_uc010pub.2_Frame_Shift_Del_p.K702fs|KCTD3_uc009xdn.3_Frame_Shift_Del_p.K528fs	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	804						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418													21	74	---	---	---	---					
ZNF670	93474	broad.mit.edu	37	1	247201212	247201212	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247201212delA	uc001icd.2	-	3	926	c.709delT	c.(709-711)tccfs	p.S237fs	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Frame_Shift_Del_p.S236fs	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGAGAACTGGAAAAAGTGAAT	0.383													22	54	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247587978delC	uc001icr.3	+	4	1371	c.1233delC	c.(1231-1233)atcfs	p.I411fs	NLRP3_uc001ics.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.I411fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.I409fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.I409fs	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547													7	83	---	---	---	---					
SH3BP5L	80851	broad.mit.edu	37	1	249106151	249106151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249106151delC	uc001iew.1	-	6	1682	c.1130delG	c.(1129-1131)ggcfs	p.G377fs	SH3BP5L_uc010pzp.1_Frame_Shift_Del_p.G270fs|SH3BP5L_uc001iev.1_Frame_Shift_Del_p.G258fs	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	377										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCGCTGCCCCGGCGCCC	0.701													4	5	---	---	---	---					
PGBD2	267002	broad.mit.edu	37	1	249211881	249211881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211881delG	uc001ifh.3	+	2	1245	c.1098delG	c.(1096-1098)aagfs	p.K366fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.K115fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.K363fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.K115fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	366										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGGAAAAAGGGGGTGAAAG	0.418													34	92	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1926367delG	uc002qxe.3	-	9	2001	c.1174delC	c.(1174-1176)cggfs	p.R392fs	MYT1L_uc002qxd.3_Frame_Shift_Del_p.R392fs|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	392					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCTCGACCGGGGGCTCAAC	0.592													14	46	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11389836_11389837insA	uc002rbd.1	-	3	861_862	c.412_413insT	c.(412-414)tggfs	p.W138fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.W138fs*31(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													8	153	---	---	---	---					
PUM2	23369	broad.mit.edu	37	2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-	rs34931937		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:20511377delT	uc002rds.1	-	3	414	c.396delA	c.(394-396)aaafs	p.K132fs	PUM2_uc002rdt.1_Frame_Shift_Del_p.K132fs|PUM2_uc002rdr.2_Frame_Shift_Del_p.K71fs|PUM2_uc010yjy.1_Frame_Shift_Del_p.K132fs|PUM2_uc002rdu.1_Frame_Shift_Del_p.K132fs|PUM2_uc010yjz.1_Frame_Shift_Del_p.K71fs	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	132	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTTGCCTTTTTGATCTC	0.373													17	31	---	---	---	---					
RPS27A	6233	broad.mit.edu	37	2	55462017	55462019	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:55462017_55462019delGAA	uc010yow.2	+	4	463_465	c.240_242delGAA	c.(238-243)aggaag>agg	p.K83del	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_In_Frame_Del_p.K83del|RPS27A_uc021vhs.1_In_Frame_Del_p.K83del	NM_001135592	NP_002945	P62979	RS27A_HUMAN	Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA.	83	Lys-rich (highly basic).				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						CTAAGAAAAGGAAGAAGAAGTCT	0.419													10	17	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71187196	71187196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:71187196delC	uc002shj.3	+	5	660	c.573delC	c.(571-573)ctcfs	p.L191fs	ATP6V1B1_uc002shi.1_Frame_Shift_Del_p.L191fs|ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.L149fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	191					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGCCGGGCTCCCCCACAATG	0.622													25	58	---	---	---	---					
GGT8P	645367	broad.mit.edu	37	2	91968647	91968647	+	RNA	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:91968647delC	uc010fho.1	+	1		c.978delC								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GTGGGTGCAGCCCCCTGACAC	0.642													28	53	---	---	---	---					
C2orf55	343990	broad.mit.edu	37	2	99439044	99439045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:99439044_99439045insC	uc002szf.1	-	6	1985_1986	c.1691_1692insG	c.(1690-1692)ggcfs	p.G564fs		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	564										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCGGCACCGCCCCTCTCCGC	0.792													6	1	---	---	---	---					
RANBP2	5903	broad.mit.edu	37	2	109388168	109388168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:109388168delA	uc002tem.4	+	20	7987	c.7861delA	c.(7861-7863)aaafs	p.K2621fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2621					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGAGAAGAAAAAACCTGA	0.353													55	143	---	---	---	---					
PAX8	7849	broad.mit.edu	37	2	114002135	114002135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:114002135delG	uc010yxt.2	-	3	424	c.258delC	c.(256-258)cccfs	p.P86fs	PAX8_uc010yxu.2_Frame_Shift_Del_p.P86fs|PAX8_uc002tjm.3_Frame_Shift_Del_p.P86fs|PAX8_uc002tjn.3_Frame_Shift_Del_p.P86fs|PAX8_uc010fku.1_Frame_Shift_Del_p.P86fs|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	86	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCACCACCTTGGGGGTGGCCA	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis						10	421	---	---	---	---					
TUBA3E	112714	broad.mit.edu	37	2	130951457	130951457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130951457delT	uc002tqv.3	-	3	1059	c.958delA	c.(958-960)aggfs	p.R320fs		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTCCCCCCTGTACAACATG	0.562													59	141	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141115624delT	uc002tvj.1	-	73	12291	c.11319delA	c.(11317-11319)aaafs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3773	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)			7	107	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165476321	165476321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:165476321delT	uc002ucl.3	-	1	741	c.200delA	c.(199-201)aagfs	p.K67fs		NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	67					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K67M(2)|p.K66N(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368													15	51	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179399405	179399406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179399405_179399406insG	uc021vsy.1	-	306	94457_94458	c.94232_94233insC	c.(94231-94233)ccafs	p.P31411fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.P25106fs|TTN_uc021vta.1_Frame_Shift_Ins_p.P25039fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.P24914fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32338	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGTATTCTGGGGCAGTGAA	0.450													8	69	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179447832	179447833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179447832_179447833insT	uc021vsy.1	-	261	58218_58219	c.57993_57994insA	c.(57991-57996)aaagatfs	p.K19331fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.K13026fs|TTN_uc021vta.1_Frame_Shift_Ins_p.K12959fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.K12834fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20258	Fibronectin type-III 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGCCATCTTTTTTCCAAG	0.460													9	21	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179638572	179638573	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179638572_179638573delAG	uc021vsy.1	-	30	7547_7548	c.7322_7323delCT	c.(7321-7323)tctfs	p.S2441fs	TTN_uc021vsz.1_Frame_Shift_Del_p.S2395fs|TTN_uc021vta.1_Frame_Shift_Del_p.S2395fs|TTN_uc021vtb.1_Frame_Shift_Del_p.S2395fs|TTN_uc002unb.2_Frame_Shift_Del_p.S2441fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2441	Ig-like 13.|Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATAGACAGAGACACGCCC	0.381													15	69	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:187521085delG	uc002upq.3	+	16	1952	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|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|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)		ACTATTTCAAGGGGGGGACTG	0.428													67	179	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219868892	219868893	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219868892_219868893delCT	uc002vjl.1	-	32	5420_5421	c.5336_5337delAG	c.(5335-5337)gagfs	p.E1779fs	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1779	Glu-rich.					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)		cttcttcctcctcttcctcctc	0.545													30	67	---	---	---	---					
NMUR1	10316	broad.mit.edu	37	2	232389804	232389804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:232389804delG	uc002vry.4	-	2	1341	c.1231delC	c.(1231-1233)ctgfs	p.L411fs		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTCCCAGCCAGGGGGTGGACC	0.652													8	84	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48612871	48612871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612871delG	uc003ctz.2	-	72	6082	c.6081delC	c.(6079-6081)cccfs	p.P2027fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2027	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P2029fs*177(1)		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)		CGGAAGGCCCGGGGGGGCCCC	0.721													11	27	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48612934	48612935	+	Frame_Shift_Ins	INS	-	-	C	rs121912842		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612934_48612935insC	uc003ctz.2	-	72	6018_6019	c.6017_6018insG	c.(6016-6018)ggcfs	p.G2006fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2006	Triple-helical region.		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion).		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)		CTCCACGGTCGCCCTTCAGCCC	0.688													14	40	---	---	---	---					
APEH	327	broad.mit.edu	37	3	49712736	49712736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49712736delG	uc010hkw.1	+	2	666	c.266delG	c.(265-267)cggfs	p.R89fs	APEH_uc003cxf.3_Frame_Shift_Del_p.R89fs	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	89					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGACCCGGGGGGAGTAA	0.562													9	21	---	---	---	---					
AMIGO3	386724	broad.mit.edu	37	3	49756813	49756814	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49756813_49756814insG	uc003cxj.3	-	0	425_426	c.85_86insC	c.(85-87)cgtfs	p.R29fs	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	29	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGCGCACGGGGCGGGAAA	0.653											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	114	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53834368	53834370	+	In_Frame_Del	DEL	AGA	AGA	-	rs147973409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53834368_53834370delAGA	uc003dgv.4	+	40	5179_5181	c.5016_5018delAGA	c.(5014-5019)cgagaa>cga	p.E1675del	CACNA1D_uc003dgu.4_In_Frame_Del_p.E1695del|CACNA1D_uc003dgy.4_In_Frame_Del_p.E1660del|CACNA1D_uc003dgw.4_In_Frame_Del_p.E1342del|CACNA1D_uc003dgx.1_In_Frame_Del_p.E851del|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1675					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAAAACGAGAAGAAGAAGAT	0.468													34	118	---	---	---	---					
FAM86DP	692099	broad.mit.edu	37	3	75476776	75476776	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:75476776delG	uc003dpp.4	-	5	648	c.289delC	c.(289-291)cggfs	p.R97fs	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Frame_Shift_Del_p.R5fs|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		ATGAATGCCCGGGGGCGGTAC	0.587													16	22	---	---	---	---					
COL8A1	1295	broad.mit.edu	37	3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99514755delG	uc003dti.1	+	2	2141	c.2013delG	c.(2011-2013)aagfs	p.K671fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K670fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K670fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	670	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.G671W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTCACTGCAAGGGGGGCAACG	0.527													15	81	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134670328	134670328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:134670328delG	uc003eqt.3	+	2	614	c.239delG	c.(238-240)cggfs	p.R80fs	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Frame_Shift_Del_p.R80fs	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	80						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R80W(1)|p.R79W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCAACCGGCGGGGGGCCCAT	0.547													9	25	---	---	---	---					
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:154032977_154032978insT	uc003ezy.4	-	2	541_542	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_uc010hvq.3_Frame_Shift_Ins_p.M154fs|DHX36_uc003ezz.4_Frame_Shift_Ins_p.M154fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	154						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337													13	32	---	---	---	---					
ZNF518B	85460	broad.mit.edu	37	4	10445201	10445202	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:10445201_10445202insA	uc003gmn.3	-	2	3238_3239	c.2751_2752insT	c.(2749-2754)tttcagfs	p.F917fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.F917fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGCAACCTGAAAAATTGAAG	0.411													15	157	---	---	---	---					
PDS5A	23244	broad.mit.edu	37	4	39878622	39878623	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:39878622_39878623insG	uc003guv.4	-	18	2683_2684	c.2143_2144insC	c.(2143-2145)cagfs	p.Q715fs		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	715					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATCGTATCTGGGGAAGGTCT	0.381													16	46	---	---	---	---					
KIAA1109	84162	broad.mit.edu	37	4	123260496	123260497	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:123260496_123260497delTT	uc003ieh.3	+	69	12330_12331	c.12285_12286delTT	c.(12283-12288)actttafs	p.T4095fs	KIAA1109_uc003iem.3_Frame_Shift_Del_p.T451fs|KIAA1109_uc003ien.3_Frame_Shift_Del_p.T29fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4095					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCAGAGACTTTATCCCCTGG	0.411													31	85	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:129864163delT	uc003igp.2	-	16	2126	c.1620delA	c.(1618-1620)aaafs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Del_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Del_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													24	66	---	---	---	---					
CLCN3	1182	broad.mit.edu	37	4	170613460	170613460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:170613460delA	uc003ish.3	+	6	1484	c.925delA	c.(925-927)aaafs	p.K309fs	CLCN3_uc003isi.3_Frame_Shift_Del_p.K309fs|CLCN3_uc011cka.2_Frame_Shift_Del_p.K309fs|CLCN3_uc011cjz.2_Frame_Shift_Del_p.K292fs|CLCN3_uc003isj.2_Frame_Shift_Del_p.K282fs	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	309					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAACGAAGCTAAAAAAAGGGA	0.308													15	125	---	---	---	---					
ACSL1	2180	broad.mit.edu	37	4	185697797	185697797	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:185697797delA	uc003iww.2	-	6	891	c.597delT	c.(595-597)tttfs	p.F199fs	ACSL1_uc011ckm.1_Frame_Shift_Del_p.F28fs|ACSL1_uc003iwt.1_Frame_Shift_Del_p.F199fs|ACSL1_uc003iwu.1_Frame_Shift_Del_p.F199fs|ACSL1_uc011ckn.1_Frame_Shift_Del_p.F165fs|ACSL1_uc010ise.1_5'Flank	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	199					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTGTCAACAAAAACCAGAG	0.393													16	39	---	---	---	---					
CWC27	10283	broad.mit.edu	37	5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:64100133_64100134insA	uc003jtn.1	+	9	1077_1078	c.858_859insA	c.(856-861)gccaaafs	p.A286fs	CWC27_uc003jtl.3_Frame_Shift_Ins_p.A286fs|CWC27_uc003jtm.3_Frame_Shift_Ins_p.A286fs|CWC27_uc010iwt.1_Frame_Shift_Ins_p.A286fs	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391													17	49	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135382150	135382150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:135382150delC	uc003lbf.4	+	3	586	c.425delC	c.(424-426)gccfs	p.A142fs	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	142	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCATCTTCGCCCCTAGCAAC	0.642													16	13	---	---	---	---					
REEP2	51308	broad.mit.edu	37	5	137777145	137777147	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137777145_137777147delCTC	uc003lda.3	+	2	299_301	c.177_179delCTC	c.(175-180)ctctcc>ctc	p.S60del	REEP2_uc003lcz.3_In_Frame_Del_p.S60del|REEP2_uc011cyt.2_In_Frame_Del_p.S21del	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	60						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAGGT	0.591													21	67	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139260510	139260510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:139260510delC	uc003lev.2	-	2	1152	c.922delG	c.(922-924)gagfs	p.E308fs	NRG2_uc003lew.2_Frame_Shift_Del_p.E308fs|NRG2_uc003lex.2_Frame_Shift_Del_p.E308fs|NRG2_uc003ley.2_Frame_Shift_Del_p.E308fs|NRG2_uc021yed.1_Frame_Shift_Del_p.E308fs	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	308	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATACTCCCCAGCGTCC	0.607													9	82	---	---	---	---					
PCDHB15	56121	broad.mit.edu	37	5	140626377	140626378	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140626377_140626378delAG	uc003lje.3	+	0	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	411	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGACAGAGAGACCAGA	0.475													36	77	---	---	---	---					
PCDHGC5	56097	broad.mit.edu	37	5	140755586	140755586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140755586delG	uc003ljy.2	+	0	1936	c.1936delG	c.(1936-1938)gtcfs	p.V646fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Frame_Shift_Del_p.V646fs	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	648	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCCGTCCAGGACCA	0.701													54	108	---	---	---	---					
ZNF454	285676	broad.mit.edu	37	5	178392010	178392010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:178392010delA	uc003mjo.2	+	4	906	c.605delA	c.(604-606)gaafs	p.E202fs	ZNF454_uc010jkz.2_Frame_Shift_Del_p.E202fs|ZNF454_uc021yjc.1_Frame_Shift_Del_p.E202fs	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		ATTCATAATGAAAAAAATGCA	0.348													7	48	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:637793_637794insG	uc003mtd.3	-	1	159_160	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_uc003mte.3_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													38	124	---	---	---	---					
MDC1	9656	broad.mit.edu	37	6	30673764	30673764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30673764delG	uc003nrg.4	-	9	3636	c.3196delC	c.(3196-3198)cttfs	p.L1066fs	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Frame_Shift_Del_p.L673fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1066	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGAAAGAAGGGGCGGAGGT	0.547								Other conserved DNA damage response genes					45	162	---	---	---	---					
SCUBE3	222663	broad.mit.edu	37	6	35200688	35200688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:35200688delG	uc003okf.1	+	4	537	c.531delG	c.(529-531)aagfs	p.K177fs	SCUBE3_uc003okg.1_Frame_Shift_Del_p.K176fs|SCUBE3_uc003okh.1_Frame_Shift_Del_p.K48fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	177	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACACCCAAGGGGGGTATTG	0.517													36	134	---	---	---	---					
CAPN11	11131	broad.mit.edu	37	6	44141052	44141052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44141052delC	uc003owt.1	+	6	798	c.760delC	c.(760-762)cccfs	p.P254fs		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	254	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P254S(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCAGAGGCCCCCTCAGAA	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78	---	---	---	---					
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:70991121delG	uc003pfg.4	-	7	1007	c.848delC	c.(847-849)cctfs	p.P283fs	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAACTCCAGGGGGGCCCGG	0.592													10	50	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80720539	80720539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80720539delA	uc003pjc.3	+	4	589	c.478delA	c.(478-480)aaafs	p.K160fs	TTK_uc003pjb.4_Frame_Shift_Del_p.K160fs	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	160					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGGTAATGTCAAAAAAAGTAA	0.383													11	39	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83810593	83810593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:83810593delT	uc011dyy.2	+	3	568	c.308delT	c.(307-309)cttfs	p.L103fs	DOPEY1_uc003pjs.1_Frame_Shift_Del_p.L103fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.L103fs	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	103					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCAAAGATCTTTTTTTATAT	0.284													48	150	---	---	---	---					
SOD2	6648	broad.mit.edu	37	6	160103610	160103610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:160103610delT	uc003qsg.3	-	4	738	c.584delA	c.(583-585)aatfs	p.N195fs	SOD2_uc003qsf.4_5'Flank|SOD2_uc003qsh.3_Frame_Shift_Del_p.N156fs|SOD2_uc003qsi.1_Frame_Shift_Del_p.N195fs|SOD2_uc011efu.1_Frame_Shift_Del_p.N135fs|SOD2_uc011efv.1_Frame_Shift_Del_p.N156fs	NM_001024465	NP_001019636	P04179	SODM_HUMAN	Homo sapiens superoxide dismutase 2, mitochondrial (SOD2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	195					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.K194T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		AGGCCTGACATTTTTATACTG	0.403													15	35	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167787857	167787858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:167787857_167787858insG	uc003qvv.1	-	6	982_983	c.770_771insC	c.(769-771)ccafs	p.P257fs	TCP10_uc003qvu.3_Frame_Shift_Ins_p.P257fs|TCP10_uc003qvw.3_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	284						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCACTGTCTGGGGCAGAACT	0.559													7	31	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	3998621	3998622	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:3998621_3998622delTG	uc003smx.3	+	7	1348_1349	c.1209_1210delTG	c.(1207-1212)actgtgfs	p.T403fs		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	403	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGAAGAAACTGTGGACATCGG	0.465													35	127	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4185504	4185504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:4185504delG	uc003smx.3	+	28	4518	c.4379delG	c.(4378-4380)tggfs	p.W1460fs	SDK1_uc010kso.3_Frame_Shift_Del_p.W736fs|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1460	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642													38	70	---	---	---	---					
CYTH3	9265	broad.mit.edu	37	7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6204578delT	uc003spt.3	-	12	1301	c.1197delA	c.(1195-1197)aaafs	p.K399fs	CYTH3_uc011jws.2_Frame_Shift_Del_p.K314fs	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	400					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAAAGCTATTTTTTATTGG	0.532													14	521	---	---	---	---					
AGR3	155465	broad.mit.edu	37	7	16913405	16913405	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:16913405delT	uc003sts.3	-	3	246	c.173_splice	c.e3+1	p.S58_splice		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	58						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCATGTTACCTTTTTTGAGCA	0.333													22	47	---	---	---	---					
URGCP	55665	broad.mit.edu	37	7	43917567	43917567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43917567delC	uc003tiw.3	-	5	1552	c.1495delG	c.(1495-1497)gacfs	p.D499fs	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Frame_Shift_Del_p.D456fs|URGCP_uc003tiv.3_Frame_Shift_Del_p.D424fs|URGCP_uc003tix.3_Frame_Shift_Del_p.D490fs|URGCP_uc003tiy.3_Frame_Shift_Del_p.D456fs|URGCP_uc003tiz.3_Frame_Shift_Del_p.D456fs|URGCP_uc011kbj.2_Frame_Shift_Del_p.D456fs	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	499					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAGGGGTCCCCCTGCAGC	0.602													42	111	---	---	---	---					
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44120414delG	uc003tjt.3	-	1	382	c.290delC	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)					12	151	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64526690	64526690	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:64526690delT	uc003ttt.1	+	2		c.407delT			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		AGGCCCTTCATTTTTTGGAAG	0.408													17	42	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731913	73731913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:73731913delG	uc003uam.3	+	1	364	c.37delG	c.(37-39)gggfs	p.G13fs	CLIP2_uc003uan.3_Frame_Shift_Del_p.G13fs	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	13						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCGGCCGTGGGGGGAAGCA	0.657													9	187	---	---	---	---					
NCF1	653361	broad.mit.edu	37	7	74202414	74202414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:74202414delG	uc003ubb.3	+	8	957	c.887delG	c.(886-888)cggfs	p.R296fs		NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	296	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CAGATCAAGCGGGGGGCGCCG	0.667													3	5	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76111999	76112000	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:76111999_76112000insG	uc011kgk.1	+	2	522_523	c.170_171insG	c.(169-171)ctgfs	p.L57fs	DTX2_uc003uff.4_Frame_Shift_Ins_p.L148fs|DTX2_uc003ufg.4_Frame_Shift_Ins_p.L148fs|DTX2_uc003ufh.4_Frame_Shift_Ins_p.L148fs|DTX2_uc003ufj.4_Frame_Shift_Ins_p.L148fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	148	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTGGCCCCCCTGGGGTACAACT	0.629													7	64	---	---	---	---					
MOSPD3	64598	broad.mit.edu	37	7	100210470	100210470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100210470delG	uc003uvq.3	+	1	258	c.56delG	c.(55-57)cggfs	p.R19fs	MOSPD3_uc003uvr.3_Frame_Shift_Del_p.R19fs|MOSPD3_uc003uvs.3_Frame_Shift_Del_p.R19fs|MOSPD3_uc003uvt.3_Frame_Shift_Del_p.R19fs	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	19						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccctgggcgggggtcccgg	0.736													14	55	---	---	---	---					
SLC26A4	5172	broad.mit.edu	37	7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:107323940delA	uc003vep.3	+	7	1183	c.959delA	c.(958-960)gaafs	p.E320fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E320K(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAACCTGGAAAAAAATTAC	0.343									Pendred syndrome				17	56	---	---	---	---					
ASB15	142685	broad.mit.edu	37	7	123256478	123256478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:123256478delA	uc003vku.1	+	5	513	c.221delA	c.(220-222)gaafs	p.E74fs	ASB15_uc003vkv.1_Frame_Shift_Del_p.E74fs|ASB15_uc003vkw.1_Frame_Shift_Del_p.E74fs	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	74					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCTGATGAAAAAGGATGG	0.353													16	14	---	---	---	---					
HIPK2	28996	broad.mit.edu	37	7	139299042	139299042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139299042delG	uc003vvf.4	-	7	2251	c.1980delC	c.(1978-1980)cccfs	p.P660fs	HIPK2_uc003vvd.4_Frame_Shift_Del_p.P633fs	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	660	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTTGGAAGCCGGGGGGACACA	0.602													10	33	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149493460	149493460	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149493460delT	uc010lpk.3	+	44	6526	c.6526_splice	c.e44-1	p.L2176_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2179	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGCAGCTTTTCCCCAGA	0.572													12	128	---	---	---	---					
NOS3	4846	broad.mit.edu	37	7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150707211delC	uc003wif.3	+	20	2817	c.2521delC	c.(2521-2523)cccfs	p.P841fs	NOS3_uc011kuy.2_Frame_Shift_Del_p.P635fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	841	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGTGGCCCTCCCCCCGGCTG	0.652													9	83	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8176649	8176649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:8176649delG	uc003wsh.4	-	4	3236	c.3236delC	c.(3235-3237)cctfs	p.P1079fs		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1079	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCCTGGGCAGGGGGGTGTGT	0.706													21	153	---	---	---	---					
TNKS	8658	broad.mit.edu	37	8	9623921	9623922	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:9623921_9623922insTA	uc003wss.3	+	24	3731_3732	c.3726_3727insTA	c.(3724-3729)tgctatfs	p.C1242fs	TNKS_uc011kww.2_Frame_Shift_Ins_p.C1005fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1242	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAGGTCATGCTATATATGTCA	0.406													9	123	---	---	---	---					
ADAM28	10863	broad.mit.edu	37	8	24167473	24167473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:24167473delA	uc003xdy.3	+	2	300	c.217delA	c.(217-219)aaafs	p.K73fs	ADAM28_uc003xdx.3_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	73					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTTATTTGAAAAAAAACAA	0.333													18	63	---	---	---	---					
AGPAT6	137964	broad.mit.edu	37	8	41456800	41456800	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:41456800delA	uc003xnz.2	+	1	1081	c.142delA	c.(142-144)aaafs	p.K48fs		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	48					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTACATGAAAAGTCTGTT	0.428													33	91	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100887781	100887781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:100887781delC	uc003yiv.3	+	61	12067	c.11956delC	c.(11956-11958)cccfs	p.P3986fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.P3961fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3986					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCAGAACCTCCCCCCTCCAC	0.468													40	100	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:116426269_116426270insT	uc003yny.3	-	6	4444_4445	c.3866_3867insA	c.(3865-3867)aatfs	p.N1289fs	TRPS1_uc011lhy.2_Frame_Shift_Ins_p.N1280fs|TRPS1_uc003ynz.3_Frame_Shift_Ins_p.N1276fs|TRPS1_uc010mcy.3_Frame_Shift_Ins_p.N1276fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1276					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome				38	110	---	---	---	---					
FAM83H	286077	broad.mit.edu	37	8	144812678	144812679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144812678_144812679delTT	uc003yzk.3	-	1	143_144	c.74_75delAA	c.(73-75)aaafs	p.K25fs	FAM83H_uc022bch.1_Frame_Shift_Del_p.K25fs	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	25					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTAGTACTCTTTGTAGTGAGG	0.683													18	42	---	---	---	---					
RECQL4	9401	broad.mit.edu	37	8	145742551	145742551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145742551delC	uc003zdj.3	-	3	279	c.237delG	c.(235-237)gggfs	p.G79fs	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	79					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGATGGGGCCCCCAGCAGC	0.692			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	26	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2119528	2119528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:2119528delT	uc003zhc.3	+	25	3854	c.3755delT	c.(3754-3756)cttfs	p.L1252fs	SMARCA2_uc003zhd.3_Frame_Shift_Del_p.L1252fs|SMARCA2_uc010mha.3_Frame_Shift_Del_p.L1185fs	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1252					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAATTTGACCTTTTTATGGTA	0.413													15	36	---	---	---	---					
FKTN	2218	broad.mit.edu	37	9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:108382270delT	uc004bcr.3	+	9	1316	c.1100delT	c.(1099-1101)gttfs	p.V367fs	FKTN_uc011lvx.2_Frame_Shift_Del_p.V367fs|FKTN_uc004bcs.3_Frame_Shift_Del_p.V367fs|FKTN_uc011lvy.2_Intron|FKTN_uc010mtm.3_Frame_Shift_Del_p.V235fs	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	367					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348													18	23	---	---	---	---					
ZFP37	7539	broad.mit.edu	37	9	115806153	115806154	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:115806153_115806154insT	uc011lwz.1	-	3	817_818	c.789_790insA	c.(787-792)aaacatfs	p.K263fs	ZFP37_uc004bgm.1_Frame_Shift_Ins_p.K248fs|ZFP37_uc011lxa.1_Frame_Shift_Ins_p.K249fs	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTGTCATGTTTTTTGCCAG	0.361													21	161	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759623	133759623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133759623delC	uc004bzw.3	+	10	1949	c.1946delC	c.(1945-1947)accfs	p.T649fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.T668fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	649					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTGGCTTTCACCCCCTTGGAC	0.682			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								31	80	---	---	---	---					
SURF4	6836	broad.mit.edu	37	9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136230378_136230380delCTT	uc004cdj.3	-	5	929_931	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_uc011mda.2_In_Frame_Del_p.K258del|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_In_Frame_Del_p.K224del|SURF4_uc011mdc.2_In_Frame_Del_p.K224del	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	267						ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547													9	30	---	---	---	---					
NSUN6	221078	broad.mit.edu	37	10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:18834895delA	uc010qcp.1	-	10	1795	c.1377delT	c.(1375-1377)tttfs	p.F459fs	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	459							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTGCAATAAAAAAACCTA	0.393													10	181	---	---	---	---					
FLJ31813	326332	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:51821328delG	uc001jiz.1	-	1		c.1307delC								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		CGGTCAGCTTGGGGGGTGCGA	0.517													58	144	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													73	234	---	---	---	---					
ATAD1	84896	broad.mit.edu	37	10	89550131	89550132	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:89550131_89550132delTG	uc001kez.1	-	3	696_697	c.317_318delCA	c.(316-318)acafs	p.T106fs	ATAD1_uc010qmr.1_Frame_Shift_Del_p.T48fs|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Frame_Shift_Del_p.T106fs	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	106						peroxisome	ATP binding|nucleoside-triphosphatase activity	p.D105Y(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTAAGATGACTGTGTCTTTCAG	0.361													18	44	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104176689	104176689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104176689delG	uc001kvg.1	-	1	634	c.107delC	c.(106-108)ccafs	p.P36fs	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Frame_Shift_Del_p.P36fs|PSD_uc001kvi.1_Frame_Shift_Del_p.P36fs|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	36	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.S36fs*43(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CATGCTGGCTGGGGGGCTCTG	0.677													8	82	---	---	---	---					
OR8U8	504189	broad.mit.edu	37	11	56143598	56143613	+	Frame_Shift_Del	DEL	TCCTATTGCCACTCCA	TCCTATTGCCACTCCA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56143598_56143613delTCCTATTGCCACTCCA	uc001nit.2	+	0	499_514	c.499_514delTCCTATTGCCACTCCA	c.(499-516)tcctattgccactccaacfs	p.S167fs		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTTCCGCCTCTCCTATTGCCACTCCAACATTGTCAA	0.458													13	367	---	---	---	---					
RPS6KA4	8986	broad.mit.edu	37	11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64129351delC	uc001oae.3	+	7	866	c.783delC	c.(781-783)ttcfs	p.F261fs	RPS6KA4_uc001oad.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.F198fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.F261fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCTCCCTTCCCCCCTCGGA	0.692													40	133	---	---	---	---					
CNIH2	254263	broad.mit.edu	37	11	66050214	66050215	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66050214_66050215insA	uc001ohi.1	+	2	393_394	c.161_162insA	c.(160-162)ttafs	p.L54fs	CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.	54					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCGAGCGTTTAAAAAACATCG	0.649											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	41	---	---	---	---					
MTL5	9633	broad.mit.edu	37	11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68517872delC	uc001ooc.3	-	1	397	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_uc001ood.1_Frame_Shift_Del_p.G86fs|MTL5_uc009ysi.1_Frame_Shift_Del_p.G86fs|MTL5_uc001ooe.3_Frame_Shift_Del_p.G86fs	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													5	7	---	---	---	---					
UCP3	7352	broad.mit.edu	37	11	73714927	73714927	+	Frame_Shift_Del	DEL	G	G	-	rs145884716	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:73714927delG	uc001our.3	-	5	1124	c.769delC	c.(769-771)ctcfs	p.L257fs	UCP3_uc001ous.2_Frame_Shift_Del_p.L257fs	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ATACAGTCGAGGGGGCTGAAG	0.617													42	152	---	---	---	---					
FAM181B	220382	broad.mit.edu	37	11	82443609	82443611	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:82443609_82443611delGGC	uc001ozp.3	-	0	1296_1298	c.1161_1163delGCC	c.(1159-1164)ccgccc>ccc	p.387_388PP>P		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	387	Pro-rich.							p.P387L(1)		large_intestine(1)|lung(2)|prostate(1)	4						CACCTGATGGGGCGGCGGCGGCG	0.704													7	34	---	---	---	---					
VPS26B	112936	broad.mit.edu	37	11	134095073	134095074	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:134095073_134095074delAG	uc001qhe.3	+	0	513_514	c.57_58delAG	c.(55-60)gcagagfs	p.A19fs	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	19					protein transport|vacuolar transport	cytosol|retromer complex		p.D18Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGAACGATGCAGAGAGTAGGAA	0.619													14	30	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:1017928delC	uc021qss.1	+	27	8542	c.7899delC	c.(7897-7899)aacfs	p.N2633fs	WNK1_uc001qio.4_Frame_Shift_Del_p.N2373fs|WNK1_uc021qst.1_Frame_Shift_Del_p.N2625fs|WNK1_uc001qip.4_Frame_Shift_Del_p.N2125fs|WNK1_uc001qir.4_Frame_Shift_Del_p.N1546fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCAGCAACCCCCCAGGCT	0.562													27	63	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6701672delT	uc001qpo.3	-	18	2999	c.2835delA	c.(2833-2835)aaafs	p.K945fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.K938fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.K942fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458													36	117	---	---	---	---					
C3AR1	719	broad.mit.edu	37	12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8212678delA	uc001qtv.1	-	1	196	c.104delT	c.(103-105)ttafs	p.L35fs	C3AR1_uc021quj.1_Frame_Shift_Del_p.L35fs	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	35					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAATCCCAGTAAAAAAGTAAG	0.527													32	97	---	---	---	---					
A2M	2	broad.mit.edu	37	12	9227323	9227323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9227323delA	uc001qvk.1	-	28	3702	c.3589delT	c.(3589-3591)tacfs	p.Y1197fs	A2M_uc009zgk.1_Frame_Shift_Del_p.Y1047fs	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGGGTTCGTAAAAATGCCCC	0.512													7	36	---	---	---	---					
TAS2R46	259292	broad.mit.edu	37	12	11214013	11214013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:11214013delA	uc001qzp.1	-	0	881	c.881delT	c.(880-882)ttgfs	p.L294fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	294					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CACATGCCACAAAACTGAAAG	0.413													12	273	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870961	12870962	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12870961_12870962insT	uc001rat.2	+	0	660_661	c.188_189insT	c.(187-189)gatfs	p.D63fs		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	63					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGGAATTTCGATTTTCAGAATC	0.574													38	138	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14781608	14781608	+	Frame_Shift_Del	DEL	T	T	-	rs145875994		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14781608delT	uc001rcd.3	-	19	2358	c.2221delA	c.(2221-2223)attfs	p.I741fs		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	741	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTAGTCTCAATTTTTTTGAAA	0.348													33	66	---	---	---	---					
FAM186B	84070	broad.mit.edu	37	12	49999241	49999241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49999241delG	uc001ruo.3	-	0	193	c.20delC	c.(19-21)ccafs	p.P7fs	FAM186B_uc010smk.2_5'UTR	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	7						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAACTGTGGGGGGTCATC	0.522													8	28	---	---	---	---					
KRT78	196374	broad.mit.edu	37	12	53242577	53242577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:53242577delC	uc001sbc.1	-	0	202	c.138delG	c.(136-138)gggfs	p.G46fs		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	46	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCAGGCACCCCCCAAAGG	0.677													10	33	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55795222	55795222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:55795222delA	uc010spl.2	+	0	910	c.910delA	c.(910-912)aaafs	p.K304fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAATTCACCAAAAAAATATT	0.353													7	31	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:57883053delT	uc001sog.3	+	2	358	c.204delT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													20	56	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69233090delC	uc021rad.1	+	9	1108	c.634delC	c.(634-636)cccfs	p.P212fs	MDM2_uc001sui.3_Frame_Shift_Del_p.P319fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.P264fs|MDM2_uc001sun.4_Frame_Shift_Del_p.P138fs|MDM2_uc009zra.3_Frame_Shift_Del_p.P112fs|MDM2_uc021raf.1_Frame_Shift_Del_p.P3fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.P3fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.P3fs|MDM2_uc009zre.3_Frame_Shift_Del_p.P60fs|MDM2_uc001suo.3_Frame_Shift_Del_p.P113fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.P3fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.P35fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.P87fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.P283fs|MDM2_uc021rai.1_Frame_Shift_Del_p.P3fs|MDM2_uc021raj.1_Frame_Shift_Del_p.P3fs			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	313	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"""sarcoma, glioma, colorectal, other"""								31	94	---	---	---	---					
CPSF6	11052	broad.mit.edu	37	12	69651670	69651670	+	Frame_Shift_Del	DEL	C	C	-	rs61754516		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69651670delC	uc001sut.4	+	4	789	c.679delC	c.(679-681)cccfs	p.P227fs	CPSF6_uc001suu.4_Frame_Shift_Del_p.P227fs|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	227	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGAGGGCCACCCCCACCTTT	0.483													31	84	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124317860	124317860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124317860delA	uc001uft.4	+	25	4416	c.4391delA	c.(4390-4392)gaafs	p.E1464fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1464	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACAAATGGGAAAAAACGCTT	0.413													11	19	---	---	---	---					
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130184705delG	uc009zyl.1	-	1	946	c.618delC	c.(616-618)cccfs	p.P206fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	206						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACCACCGTGGGGGGGCTGA	0.711													13	54	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133266904	133266904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133266904delA	uc001ukt.3	+	1	243	c.178delA	c.(178-180)aaafs	p.K60fs	POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	60						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAAGAAGCGGAAAAAAGAAAA	0.512													7	119	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:23911843delA	uc001uon.2	-	9	6761	c.6172delT	c.(6172-6174)tctfs	p.S2058fs	SACS_uc001uoo.2_Frame_Shift_Del_p.S1911fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2058					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACTTCAGAAAAAAACTGT	0.333													18	31	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49030367	49030368	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:49030367_49030368insA	uc001vcb.3	+	18	2008_2009	c.1842_1843insA	c.(1840-1845)aagaaafs	p.K614fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	614	Pocket; binds T and E1A.|Spacer.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.G617fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTCCAAAGAAAAAAGGTTC	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	34	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:77844149delT	uc021rks.1	-	6	1505	c.1238delA	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					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)		TAACCAAGACTTTTTTTCTTT	0.289													10	163	---	---	---	---					
UPF3A	65110	broad.mit.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:115057211delA	uc001vup.3	+	6	846	c.790delA	c.(790-792)aaafs	p.K264fs	UPF3A_uc001vuq.3_Frame_Shift_Del_p.K231fs|UPF3A_uc001vur.3_Non-coding_Transcript|UPF3A_uc001vut.3_Frame_Shift_Del_p.K63fs|UPF3A_uc001vuu.3_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	264					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363													7	10	---	---	---	---					
CPNE6	9362	broad.mit.edu	37	14	24542775	24542776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24542775_24542776insT	uc010tnv.2	+	3	547_548	c.401_402insT	c.(400-402)tatfs	p.Y134fs	CPNE6_uc001wlm.3_5'UTR|CPNE6_uc001wll.3_Frame_Shift_Ins_p.Y79fs|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	79					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594													35	92	---	---	---	---					
RNF31	55072	broad.mit.edu	37	14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24619809delG	uc001wmn.1	+	7	1449	c.1200delG	c.(1198-1200)cagfs	p.Q400fs	RNF31_uc001wml.1_Frame_Shift_Del_p.Q249fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.Q215fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	400	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517													64	162	---	---	---	---					
STXBP6	29091	broad.mit.edu	37	14	25443930	25443931	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:25443930_25443931delTT	uc001wpu.3	-	1	809_810	c.94_95delAA	c.(94-96)aagfs	p.K32fs	STXBP6_uc001wpv.3_Frame_Shift_Del_p.K32fs|STXBP6_uc001wpw.3_Frame_Shift_Del_p.K32fs|STXBP6_uc001wpx.1_Non-coding_Transcript	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA.	32					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAAGGAATCTTTTTCTTTGTC	0.381													3	3	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:69256455delC	uc021rve.1	-	2	1113	c.1019delG	c.(1018-1020)ggtfs	p.G340fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	271					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	245	---	---	---	---					
EIF2B2	8892	broad.mit.edu	37	14	75474467	75474469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75474467_75474469delGAA	uc001xrc.2	+	6	956_958	c.874_876delGAA	c.(874-876)gaadel	p.E293del		NM_014239	NP_055054	P49770	EI2BB_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2), mRNA.	293					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTGGCTCCTGAAGAAGTCCTGC	0.414													14	51	---	---	---	---					
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95662949delT	uc001yef.2	-	9	2710	c.2594delA	c.(2593-2595)aagfs	p.K865fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	865						integral to membrane	actin binding	p.K865fs*10(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408													17	30	---	---	---	---					
WARS	7453	broad.mit.edu	37	14	100803477	100803478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100803477_100803478insC	uc001yhh.1	-	9	1556_1557	c.1175_1176insG	c.(1174-1176)ggcfs	p.G392fs	WARS_uc001yhi.1_Frame_Shift_Ins_p.G351fs|WARS_uc001yhg.2_Frame_Shift_Ins_p.G392fs|WARS_uc001yhl.1_Frame_Shift_Ins_p.G392fs|WARS_uc001yhk.1_Frame_Shift_Ins_p.G351fs	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	392					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.G392V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CATCACAGTTGCCCCCAAACTG	0.559													7	374	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106207939	106207941	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:106207939_106207941delGAA	uc001yse.3	-	4	906_908	c.460_462delTTC	c.(460-462)ttcdel	p.F154del	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		TGCTGTAGAGGAAGAAGGAGCCG	0.586													9	229	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34080521	34080523	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34080521_34080523delAGG	uc001zhi.3	+	66	9762_9764	c.9692_9694delAGG	c.(9691-9696)caggag>cag	p.E3234del	RYR3_uc010bar.3_In_Frame_Del_p.E3234del	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3234					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)		AAGACGGTGCAGGAGGAGGAGCA	0.557													9	185	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40330494_40330496delTCT	uc001zkq.2	-	2	269_271	c.197_199delAGA	c.(196-201)aagatc>atc	p.K66del	SRP14_uc001zkr.2_In_Frame_Del_p.K66del|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	66					SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453													15	61	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43714237	43714237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43714237delC	uc001zrs.3	-	18	4049	c.3901delG	c.(3901-3903)gatfs	p.D1301fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.D1301fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.D1306fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.D1306fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.D1306fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1301					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCTGATATCCCCCAGGTCA	0.527								Other conserved DNA damage response genes					7	127	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43733757delT	uc001zrs.3	-	14	3198	c.3050delA	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.N1017fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.N1022fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1017					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTAGATCCATTTTTTCTTTC	0.393								Other conserved DNA damage response genes					33	93	---	---	---	---					
CEP152	22995	broad.mit.edu	37	15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:49036443delT	uc001zwz.3	-	23	4022	c.3829delA	c.(3829-3831)attfs	p.I1277fs	CEP152_uc001zwy.3_Frame_Shift_Del_p.I1221fs|CEP152_uc001zxa.2_Frame_Shift_Del_p.I1184fs	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1221					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			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)		TTACATTTAATTTTTTTTACA	0.393													10	44	---	---	---	---					
C2CD4A	145741	broad.mit.edu	37	15	62360188	62360188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62360188delC	uc002ahf.4	+	1	517	c.376delC	c.(376-378)cccfs	p.P126fs	C2CD4A_uc021snl.1_Frame_Shift_Del_p.P126fs	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA.	126						nucleus											cgggggcccgcccgcgccccg	0.811													2	4	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64966285	64966285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64966285delG	uc002ann.3	+	3	1232	c.1232delG	c.(1231-1233)cggfs	p.R411fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	411						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						AAAGGCCGTCGGGGCAGCCAG	0.547													35	149	---	---	---	---					
EFTUD1	79631	broad.mit.edu	37	15	82523237	82523238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82523237_82523238insC	uc002bgt.1	-	7	975_976	c.806_807insG	c.(805-807)ggafs	p.G269fs	EFTUD1_uc002bgu.1_Frame_Shift_Ins_p.G218fs	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	269					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAGTAATCTCCCCACAAGGT	0.361													35	62	---	---	---	---					
KIF7	374654	broad.mit.edu	37	15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90190209delC	uc002bof.2	-	6	1717	c.1640delG	c.(1639-1641)ggcfs	p.G547fs	KIF7_uc010upw.1_Frame_Shift_Del_p.G34fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	547					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---					
MAPK8IP3	23162	broad.mit.edu	37	16	1817703	1817703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:1817703delG	uc010uvl.2	+	26	3496	c.3376delG	c.(3376-3378)gtgfs	p.V1126fs	MAPK8IP3_uc002cmk.3_Frame_Shift_Del_p.V1125fs|MAPK8IP3_uc002cml.3_Frame_Shift_Del_p.V1115fs|MAPK8IP3_uc021tah.1_Frame_Shift_Del_p.V1119fs	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1125					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTACAGGACGTGGACATTGA	0.647													13	44	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2819185_2819187delTCC	uc002crk.3	+	11	8470_8472	c.7921_7923delTCC	c.(7921-7923)tccdel	p.S2648del		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591													27	90	---	---	---	---					
CLDN9	9080	broad.mit.edu	37	16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3063895delG	uc010uwo.1	+	0	1439	c.532delG	c.(532-534)gggfs	p.G178fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	178					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TATGCTGGGCGGGGGGCTCCT	0.721													29	74	---	---	---	---					
CACNG3	10368	broad.mit.edu	37	16	24372743	24372744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24372743_24372744insA	uc002dmf.3	+	3	1709_1710	c.507_508insA	c.(505-510)tccaaafs	p.S169fs		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCGTGACTCCAAAAAAAGTTA	0.441													10	196	---	---	---	---					
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30409310delC	uc002dya.2	+	1	1115	c.739delC	c.(739-741)cccfs	p.P247fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.P247fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.P124fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.P247fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGAGCAGCCCCCCCGACC	0.637													29	57	---	---	---	---					
CDH8	1006	broad.mit.edu	37	16	61935343	61935344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:61935343_61935344insT	uc002eog.2	-	2	1241_1242	c.286_287insA	c.(286-288)atcfs	p.I96fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATATACTTGATTTTTTTGCTC	0.376													17	65	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68856088	68856088	+	Frame_Shift_Del	DEL	C	C	-	rs33969373	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:68856088delC	uc002ewg.1	+	11	2020	c.1896delC	c.(1894-1896)cacfs	p.H632fs	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Frame_Shift_Del_p.H571fs	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	632	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACTAACACACGGGGCGAGTG	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				7	82	---	---	---	---					
KIAA1609	57707	broad.mit.edu	37	16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84514303delC	uc002fib.3	-	6	1196	c.1089delG	c.(1087-1089)gggfs	p.G363fs	KIAA1609_uc010vod.2_Frame_Shift_Del_p.G336fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	363	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						AATTGTGCTGCCCCCCCATAC	0.547													22	27	---	---	---	---					
ZFPM1	161882	broad.mit.edu	37	16	88555465	88555465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88555465delC	uc002fkv.3	+	2	205	c.172delC	c.(172-174)cccfs	p.P58fs		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	58					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACCGCTGCCGCCCCCCACATC	0.652													15	41	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1637102	1637102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1637102delG	uc002ftj.2	+	6	4900	c.4771delG	c.(4771-4773)gggfs	p.G1591fs	WDR81_uc002fth.2_Frame_Shift_Del_p.G540fs|WDR81_uc010vqp.1_Frame_Shift_Del_p.G388fs|WDR81_uc002fti.2_Frame_Shift_Del_p.G364fs|WDR81_uc010vqq.1_Frame_Shift_Del_p.G222fs	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	364										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGGGTGGCGGGGGCCTGGG	0.682													29	83	---	---	---	---					
FLII	2314	broad.mit.edu	37	17	18150040	18150042	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18150040_18150042delCTC	uc002gsr.1	-	22	2968_2970	c.2917_2919delGAG	c.(2917-2919)gagdel	p.E973del	FLII_uc002gsq.1_In_Frame_Del_p.E844del|FLII_uc010vxn.1_In_Frame_Del_p.E942del|FLII_uc010vxo.1_In_Frame_Del_p.E918del|FLII_uc002gss.1_In_Frame_Del_p.E972del	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	973	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ctggctgcttctcctctgcctca	0.571													8	17	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27959375delG	uc002heo.1	-	14	2756	c.2756delC	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Del_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483													14	391	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29204438	29204438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:29204438delA	uc002hfs.1	+	15	4132	c.3789delA	c.(3787-3789)atafs	p.I1263fs		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1263					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGCAGGAATAAAAAATTCTT	0.299													14	34	---	---	---	---					
RAMP2	10266	broad.mit.edu	37	17	40914372	40914372	+	Splice_Site	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40914372delG	uc002ibg.3	+	3	232	c.164_splice	c.e3-1	p.G55_splice	LOC100190938_uc002ibe.4_5'Flank|LOC100190938_uc002ibf.4_5'Flank|RAMP2_uc010cyt.3_Frame_Shift_Del_p.G60fs|RAMP2_uc021txv.1_Intron	NM_005854	NP_005845	O60895	RAMP2_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 2 (RAMP2), mRNA.	55					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507													32	152	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42170121	42170121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42170121delG	uc002iff.1	-	6	1030	c.698delC	c.(697-699)cctfs	p.P233fs	HDAC5_uc002ifd.1_Frame_Shift_Del_p.P232fs|HDAC5_uc002ife.1_Frame_Shift_Del_p.P232fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.P232fs|HDAC5_uc002ifh.2_Frame_Shift_Del_p.P232fs	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	232					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647													15	46	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48668820	48668820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48668820delG	uc002irk.1	+	10	2850	c.2478delG	c.(2476-2478)cagfs	p.Q826fs	CACNA1G_uc002iri.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irj.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.Q826fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.Q739fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.Q739fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	826					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCCAGCAGGGGGGCGGCC	0.682													6	9	---	---	---	---					
TMEM100	55273	broad.mit.edu	37	17	53798255	53798255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:53798255delG	uc002iuj.4	-	1	488	c.177delC	c.(175-177)cccfs	p.P59fs	TMEM100_uc002iuk.4_Frame_Shift_Del_p.P59fs|TMEM100_uc021uai.1_Frame_Shift_Del_p.P59fs	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	59						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CCACAGCAAAGGGGATGATGC	0.537													32	117	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56386548	56386548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56386548delG	uc002ivx.4	-	21	4956	c.4085delC	c.(4084-4086)cctfs	p.P1362fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Del_p.P1302fs|BZRAP1_uc010wnt.2_Frame_Shift_Del_p.P1362fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1362						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAATGCAGGTTCAGGCGG	0.627													32	70	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56435161delC	uc002iwf.3	-	7	3932	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(2)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602													65	105	---	---	---	---					
PITPNC1	26207	broad.mit.edu	37	17	65688788	65688788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:65688788delC	uc002jgc.3	+	8	1130	c.783delC	c.(781-783)atcfs	p.I261fs	PITPNC1_uc002jgb.3_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	261					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCAGCATCCCCCTGCTGC	0.532													49	136	---	---	---	---					
LOC100499466	100499466	broad.mit.edu	37	17	66131778	66131778	+	RNA	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:66131778delC	uc002jgq.3	+	5		c.10901delC								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TCCGCCCAGACCCCCCTGCCC	0.692													13	24	---	---	---	---					
NAT9	26151	broad.mit.edu	37	17	72767902	72767903	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72767902_72767903delTT	uc002jlq.3	-	6	658_659	c.584_585delAA	c.(583-585)gaafs	p.E195fs	NAT9_uc002jlr.3_Frame_Shift_Del_p.E194fs	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA.	195						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGGCTTCTCTTCCACGTGGCT	0.574													19	36	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808481	77808483	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808481_77808483delCTT	uc002jxe.3	-	4	1121_1123	c.958_960delAAG	c.(958-960)aagdel	p.K320del		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	320	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.K319I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGCCTCCACCTTCTTCTCCTCT	0.690											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808751	77808751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808751delG	uc002jxe.3	-	4	853	c.690delC	c.(688-690)cccfs	p.P230fs		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATTCCGTTGGGGGGGCCCT	0.642											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	103	---	---	---	---					
SECTM1	6398	broad.mit.edu	37	17	80285100	80285101	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80285100_80285101insG	uc002keo.3	-	1	414_415	c.16_17insC	c.(16-18)ctgfs	p.L6fs		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	6					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGAATGCCAGGGGGCAGGTC	0.624													7	14	---	---	---	---					
LIPG	9388	broad.mit.edu	37	18	47113130	47113130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:47113130delC	uc002ldv.3	+	8	1643	c.1391delC	c.(1390-1392)acafs	p.T464fs	LIPG_uc010xdh.2_Frame_Shift_Del_p.T390fs	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	464	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATTTTGTACAGAAGACCCT	0.507													21	41	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:57013285delT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294													27	89	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72345748	72345748	+	Frame_Shift_Del	DEL	G	G	-	rs144140002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72345748delG	uc002llw.2	+	0	2826	c.2773delG	c.(2773-2775)gggfs	p.G925fs	ZNF407_uc010xfc.2_Frame_Shift_Del_p.G925fs|ZNF407_uc010dqu.2_Frame_Shift_Del_p.G925fs|ZNF407_uc002llu.2_Frame_Shift_Del_p.G924fs	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G925V(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCCTGAAGGGGGTAGCCT	0.463													8	105	---	---	---	---					
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3589527delG	uc002lyd.4	+	3	706	c.679delG	c.(679-681)gggfs	p.G227fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	227								p.S226F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607													19	59	---	---	---	---					
MATK	4145	broad.mit.edu	37	19	3784848	3784848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3784848delG	uc002lyt.3	-	2	507	c.107delC	c.(106-108)cctfs	p.P36fs	MATK_uc002lyv.3_Frame_Shift_Del_p.P37fs|MATK_uc002lyu.3_5'UTR|MATK_uc010dtq.3_Frame_Shift_Del_p.P36fs	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	36					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACGGGAGGGGGGTGCCA	0.657													2	4	---	---	---	---					
MAP2K7	5609	broad.mit.edu	37	19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7976149delC	uc002mit.3	+	7	935	c.870delC	c.(868-870)gacfs	p.D290fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	290	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(2)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGCGCATTGACCCCCCAGACC	0.706													12	75	---	---	---	---					
OLFM2	93145	broad.mit.edu	37	19	9964954	9964954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:9964954delG	uc002mmp.3	-	5	1301	c.1273delC	c.(1273-1275)cggfs	p.R425fs		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	425	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCGCTCCCGGGGGTTGTAA	0.557													30	100	---	---	---	---					
CC2D1A	54862	broad.mit.edu	37	19	14029735	14029736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14029735_14029736insC	uc002mxo.2	+	9	1328_1329	c.1029_1030insC	c.(1027-1032)ccacccfs	p.P343fs	CC2D1A_uc002mxn.2_Frame_Shift_Ins_p.P242fs|CC2D1A_uc002mxp.2_Frame_Shift_Ins_p.P343fs|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	343	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGAC	0.668													10	30	---	---	---	---					
PKN1	5585	broad.mit.edu	37	19	14562728	14562728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14562728delC	uc002myp.3	+	6	1226	c.1058delC	c.(1057-1059)accfs	p.T353fs	PKN1_uc002myq.3_Frame_Shift_Del_p.T359fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	353	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGACCTGGGACCCCAGACAGC	0.682													14	33	---	---	---	---					
CRTC1	23373	broad.mit.edu	37	19	18888096	18888096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18888096delC	uc010ebv.3	+	14	1945	c.1857delC	c.(1855-1857)gacfs	p.D619fs	CRTC1_uc002nkb.4_Frame_Shift_Del_p.D603fs|CRTC1_uc010ebw.3_Frame_Shift_Del_p.D439fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	603					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCAAGATCGACCCCCTGACCC	0.642													17	567	---	---	---	---					
ZNF708	7562	broad.mit.edu	37	19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:21476363delT	uc002npq.1	-	3	1603	c.1405delA	c.(1405-1407)attfs	p.I469fs	ZNF708_uc002npr.1_Frame_Shift_Del_p.I405fs|ZNF708_uc010ecs.1_Frame_Shift_Del_p.I405fs	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313													13	32	---	---	---	---					
ZNF567	163081	broad.mit.edu	37	19	37210375	37210375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:37210375delA	uc010xtl.2	+	5	971	c.749delA	c.(748-750)gaafs	p.E250fs	ZNF567_uc002oeo.1_Frame_Shift_Del_p.E250fs|ZNF567_uc010xtk.1_Frame_Shift_Del_p.E250fs|ZNF567_uc002oep.4_Frame_Shift_Del_p.E219fs|ZNF567_uc002oeq.1_Frame_Shift_Del_p.E219fs	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACCAATATTGAAAAAAAACAT	0.348													9	26	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40316563delG	uc002omj.3	-	10	1962	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.P533fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.P521fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	561	Poly-Pro.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATCAGCTCCGGGGGTGGTGG	0.711													10	135	---	---	---	---					
ERF	2077	broad.mit.edu	37	19	42752695	42752695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42752695delC	uc002ote.4	-	3	1727	c.1569delG	c.(1567-1569)gggfs	p.G523fs	ERF_uc002otd.4_Frame_Shift_Del_p.G254fs	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	523					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G522V(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGTGAGGGGCCCCCCAGCCT	0.697													35	50	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42796883delC	uc002otf.1	+	13	3381	c.3341delC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			"""Mis, F, S"""		oligodendroglioma								10	124	---	---	---	---					
FBXO46	23403	broad.mit.edu	37	19	46215483	46215483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46215483delG	uc002pcz.3	-	1	1394	c.1271delC	c.(1270-1272)ccgfs	p.P424fs	FBXO46_uc002pcy.3_Frame_Shift_Del_p.P424fs|FBXO46_uc021uvz.1_Frame_Shift_Del_p.P424fs	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	424							protein binding			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)		GGAGTCGGCCGGGGGTGGCTC	0.726													21	35	---	---	---	---					
SIX5	147912	broad.mit.edu	37	19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46269107delG	uc002pdb.3	-	2	2267	c.1872delC	c.(1870-1872)cccfs	p.P624fs		NM_175875	NP_787071	Q8N196	SIX5_HUMAN	Homo sapiens SIX homeobox 5 (SIX5), mRNA.	624						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711													8	31	---	---	---	---					
DMWD	1762	broad.mit.edu	37	19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46289388delG	uc002pdj.1	-	2	1412	c.1366delC	c.(1366-1368)ctgfs	p.L456fs	DMWD_uc021uwc.1_Frame_Shift_Del_p.P109fs|DMWD_uc010eko.1_Frame_Shift_Del_p.L141fs	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	456					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711													6	13	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46404622	46404622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46404622delG	uc002pdt.3	-	1	497	c.410delC	c.(409-411)cctfs	p.P137fs		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	137	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGGCCGCAGGGGGCTCCTC	0.706													2	4	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49000732delG	uc002pjk.3	-	11	3681	c.3681delC	c.(3679-3681)cccfs	p.P1227fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCGGGCTTGGGGGGGTCCC	0.711													18	59	---	---	---	---					
KLK8	11202	broad.mit.edu	37	19	51501092	51501093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:51501092_51501093insG	uc002puq.1	-	4	862_863	c.676_677insC	c.(676-678)cagfs	p.Q226fs	KLK8_uc002pur.1_Frame_Shift_Ins_p.Q181fs|KLK8_uc002pus.1_Frame_Shift_Ins_p.Q40fs|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Frame_Shift_Ins_p.Q181fs|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	181	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACACTTCTTCTGGGGAAAGATT	0.520													33	106	---	---	---	---					
SUV420H2	84787	broad.mit.edu	37	19	55853590	55853590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55853590delC	uc002qkj.4	+	2	366	c.118delC	c.(118-120)cccfs	p.P40fs	SUV420H2_uc010esx.1_Frame_Shift_Del_p.P40fs|SUV420H2_uc002qkk.1_Frame_Shift_Del_p.P40fs|SUV420H2_uc002qkl.3_Intron	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCCTGTGCCCCCCCTGCG	0.716													9	22	---	---	---	---					
EPN1	29924	broad.mit.edu	37	19	56206666	56206666	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56206666delC	uc002qlw.3	+	10	2017	c.1675delC	c.(1675-1677)cccfs	p.P559fs	EPN1_uc002qlv.3_Frame_Shift_Del_p.P533fs|EPN1_uc010etd.3_Frame_Shift_Del_p.P558fs|EPN1_uc002qlx.3_Frame_Shift_Del_p.P645fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	559	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCTGGCCTGCCCCCCATGAT	0.697													8	9	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56466960	56466961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56466960_56466961insT	uc002qmh.3	+	2	1607_1608	c.1536_1537insT	c.(1534-1539)gaatttfs	p.E512fs	NLRP8_uc010etg.3_Frame_Shift_Ins_p.E512fs	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTCAGGAATTTTTTGCGGC	0.465													68	217	---	---	---	---					
ZNF787	126208	broad.mit.edu	37	19	56599606	56599606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56599606delC	uc010eth.1	-	2	1054	c.935delG	c.(934-936)ggcfs	p.G312fs		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGGCTCCTCGCCCCCCGCCGC	0.761													6	8	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58084579delA	uc002qpf.3	-	3	864	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													7	212	---	---	---	---					
SIGLEC1	6614	broad.mit.edu	37	20	3677446	3677446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3677446delG	uc002wja.3	-	9	2470	c.2470delC	c.(2470-2472)ctgfs	p.L824fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.L824fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	824	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAAGGCCAGGGGGCGGCTG	0.637													24	56	---	---	---	---					
KIAA1755	85449	broad.mit.edu	37	20	36841555	36841555	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:36841555delG	uc002xhy.1	-	13	3764	c.3492delC	c.(3490-3492)cccfs	p.P1164fs	KIAA1755_uc002xhv.1_Frame_Shift_Del_p.P228fs|KIAA1755_uc002xhw.1_Frame_Shift_Del_p.P219fs|KIAA1755_uc002xhx.1_Frame_Shift_Del_p.P442fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1164										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTCTGCCTGGGGGGCTGCT	0.642													24	70	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122567	35122567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35122567delC	uc002yta.1	+	5	734	c.466delC	c.(466-468)cccfs	p.P156fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Frame_Shift_Del_p.P40fs|ITSN1_uc002ysy.3_Frame_Shift_Del_p.P156fs|ITSN1_uc002ysx.3_Frame_Shift_Del_p.P119fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Del_p.P156fs|ITSN1_uc010gmg.3_Frame_Shift_Del_p.P119fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Del_p.P156fs|ITSN1_uc010gmi.3_Frame_Shift_Del_p.P119fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.P156fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.P156fs|ITSN1_uc010gmk.3_Frame_Shift_Del_p.P119fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Del_p.P156fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Frame_Shift_Del_p.P90fs|ITSN1_uc021wip.1_Frame_Shift_Del_p.P50fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	156					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522													14	79	---	---	---	---					
BRWD1	54014	broad.mit.edu	37	21	40571323	40571324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40571323_40571324insT	uc002yxk.2	-	39	5313_5314	c.5018_5019insA	c.(5017-5019)aagfs	p.K1673fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.K316fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.K1673fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATGTAATAACTTTTTTCTAGC	0.381													7	72	---	---	---	---					
UMODL1	89766	broad.mit.edu	37	21	43504322	43504322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43504322delG	uc002zag.1	+	2	448	c.448delG	c.(448-450)gggfs	p.G150fs	UMODL1_uc002zad.1_Frame_Shift_Del_p.G78fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.G78fs|UMODL1_uc002zaf.1_Frame_Shift_Del_p.G150fs|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	150	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.N150N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGTCAGGGGGGCGCTA	0.652													32	123	---	---	---	---					
KRTAP10-10	353333	broad.mit.edu	37	21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46057597delC	uc002zfq.3	+	0	325	c.263delC	c.(262-264)tccfs	p.S88fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	88	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642													8	203	---	---	---	---					
IL17RA	23765	broad.mit.edu	37	22	17590304	17590304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:17590304delC	uc002zly.3	+	12	2326	c.2195delC	c.(2194-2196)accfs	p.T732fs		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	732					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGCAGCAGCACCCCCATGGCG	0.682													8	32	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:20936976delC	uc002zsp.3	+	9	1431	c.1351delC	c.(1351-1353)cccfs	p.P451fs	MED15_uc002zsq.3_Frame_Shift_Del_p.P411fs|MED15_uc010gso.3_Frame_Shift_Del_p.P394fs|MED15_uc002zsr.3_Frame_Shift_Del_p.P385fs|MED15_uc011ahs.2_Frame_Shift_Del_p.P385fs|MED15_uc002zss.3_Frame_Shift_Del_p.P330fs|MED15_uc011ahu.2_Frame_Shift_Del_p.P161fs|MED15_uc002zst.3_Frame_Shift_Del_p.P67fs|MED15_uc002zsu.3_Frame_Shift_Del_p.P56fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	451	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726													16	38	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120299	38120299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38120299delG	uc003atr.3	+	6	2007	c.1736delG	c.(1735-1737)tgtfs	p.C579fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.C407fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.C579fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.C407fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	579					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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)					AGAACATCCTGTGCCCAGCGG	0.592													7	156	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70472963	70472963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70472963delG	uc004dzh.2	-	1	322	c.143delC	c.(142-144)cctfs	p.P48fs	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Del_p.P48fs|ZMYM3_uc004dzj.2_Frame_Shift_Del_p.P48fs|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Frame_Shift_Del_p.P48fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	48					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P48P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAAGGGCCAGGGGGGGCCCA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	6	---	---	---	---					
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100538467delT	uc004ehb.3	-	3	534	c.508delA	c.(508-510)accfs	p.T170fs	TAF7L_uc004eha.3_Frame_Shift_Del_p.T84fs|TAF7L_uc004ehc.2_Frame_Shift_Del_p.T84fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393													7	137	---	---	---	---					
ZNF280C	55609	broad.mit.edu	37	X	129370543	129370543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:129370543delT	uc004evm.3	-	6	767	c.564delA	c.(562-564)aaafs	p.K188fs	ZNF280C_uc010nrf.2_Frame_Shift_Del_p.K188fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGGTCTTTGGTTTTTTTGGAG	0.358													9	51	---	---	---	---					
