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
NYAP2	57624	broad.mit.edu	37	2	226447157	226447157	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:226447157G>A	uc002voe.2	+	3	1199	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.A112T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	342	Pro-rich.																ATTTCCCCCCGCCCCCGTGCA	0.632000													5	77					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30403186	30403186	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr22:30403186A>C	uc003agv.4	+	9	1083	c.755A>C	c.(754-756)cAt>cCt	p.H252P	MTMR3_uc003agu.4_Missense_Mutation_p.H252P|MTMR3_uc003agw.4_Missense_Mutation_p.H252P	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	252	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATGATGAGCATCTGGTACAG	0.547000													24	57					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83244	83244	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrGL000219.1:83244C>T	uc022brb.1	-	3	423	c.110G>A	c.(109-111)aGt>aAt	p.S37N	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TGCTGTTTTACTTTTTGCTTC	0.358000													5	117					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38343988	38343988	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:38343988A>G	uc001ccf.1	-	9	1094	c.1057T>C	c.(1057-1059)Tgc>Cgc	p.C353R	INPP5B_uc009vvk.1_Missense_Mutation_p.C458R|INPP5B_uc001ccg.1_Missense_Mutation_p.C517R|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	597					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCACGGCACTTCTCACTG	0.547000													16	50					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349675	100349675	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:100349675T>C	uc003uwj.3	+	13	2112	c.1947T>C	c.(1945-1947)atT>atC	p.I649I	ZAN_uc003uwk.3_Silent_p.I649I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	649	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			AACCCACCATTTCCACAGAAA	0.517000													7	444					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183594619	183594619	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:183594619G>T	uc002uow.1	+	7	1093	c.678G>T	c.(676-678)gtG>gtT	p.V226V	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.V226V|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	226	Thioredoxin 1.				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)			AGAGTTTAGTGAGTTTTGCAA	0.323000													92	184					8.32725e-61	9.47584e-61	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040126	31040126	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:31040126C>G	uc002nsu.1	+	3	3738	c.3600C>G	c.(3598-3600)gaC>gaG	p.D1200E	ZNF536_uc010edd.1_Missense_Mutation_p.D1200E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCAAAGACAGCAGCAGCG	0.592000													21	45					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958793	152958793	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrX:152958793T>C	uc004fib.3	+	5	1266	c.988T>C	c.(988-990)Tac>Cac	p.Y330H	SLC6A8_uc004fic.3_Missense_Mutation_p.Y330H|SLC6A8_uc011myx.1_Missense_Mutation_p.Y215H|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	330					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S329C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCTGGGCAGCTACAACCGCTT	0.632000													3	85					0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46703276	46703276	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:46703276T>C	uc002inx.3	-	0	560	c.356A>G	c.(355-357)gAg>gGg	p.E119G		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	119					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CAGCAGCGGCTCCGCCTTCAC	0.726000													7	22					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219529245	219529245	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:219529245G>A	uc002vit.3	-	9	903	c.815C>T	c.(814-816)gCg>gTg	p.A272V	RNF25_uc010fvw.3_Missense_Mutation_p.A160V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	272					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGTTCCGCAGGGGCAGG	0.552000													3	30					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98667795	98667795	+	Silent	SNP	A	A	T	rs61750357		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:98667795A>T	uc001vne.3	+	22	2571	c.2391A>T	c.(2389-2391)gtA>gtT	p.V797V		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	779					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCATTGAAGTAATGGGAGATG	0.348000													53	87					0	0	1	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198365881	198365881	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:198365881A>G	uc021vum.1	+	1	527	c.87A>G	c.(85-87)ggA>ggG	p.G29G	HSPD1_uc002uui.3_5'Flank|HSPD1_uc010zgx.2_5'Flank|HSPD1_uc010fsm.3_5'Flank|HSPD1_uc002uuk.3_5'Flank|HSPD1_uc010zgy.1_5'Flank|HSPE1-MOB4_uc002uul.3_Silent_p.G29G	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		TAACCAAAGGAGGCATTATGC	0.438000													120	201					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018324	176018324	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:176018324G>A	uc021yie.1	+	29	3927	c.3653_splice	c.e29+1	p.R1218_splice	CDHR2_uc003mem.2_Splice_Site_p.R1218_splice|CDHR2_uc003men.1_Splice_Site_p.R1218_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1218					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						AACACTGAGCGGTGAGCAGGG	0.597000													37	67					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436719	436719	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:436719A>G	uc003gaf.4	-	2	1859	c.1633T>C	c.(1633-1635)Tcc>Ccc	p.S545P	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.S513P|ABCA11P_uc010ibe.3_Missense_Mutation_p.S501P	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		AGGGTTGTGGAACTAGTAAAC	0.398000													33	72					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874782	144874782	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:144874782C>T	uc021ouh.1	-	29	5128	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1609N|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1565N|PDE4DIP_uc001elv.4_Missense_Mutation_p.S616N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1609	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAAGAGGTGCTGCTGGGAGA	0.537000			T	PDGFRB	MPD								21	121					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201768315	201768315	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:201768315C>A	uc002uwp.2	+	5	1786	c.1048C>A	c.(1048-1050)Ctt>Att	p.L350I	NIF3L1_uc002uwm.2_Missense_Mutation_p.L350I|NIF3L1_uc002uwl.2_Missense_Mutation_p.L323I|NIF3L1_uc002uwn.2_Missense_Mutation_p.L323I|NIF3L1_uc002uwq.2_3'UTR	NM_021824	NP_068596	Q9GZT8	NIF3L_HUMAN	Homo sapiens NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) (NIF3L1), transcript variant 2, mRNA.	350					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCTTTCTGACCTTCGAGATAT	0.423000													71	131					5.68823e-23	6.29201e-23	1	1	0
C21orf33	8209	broad.mit.edu	37	21	45563146	45563146	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr21:45563146T>G	uc002zec.4	+	5	667	c.581T>G	c.(580-582)gTg>gGg	p.V194G	C21orf33_uc002zed.4_Missense_Mutation_p.V163G	NM_004649	NP_004640	P30042	ES1_HUMAN	Homo sapiens chromosome 21 open reading frame 33 (C21orf33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	194						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAGGTGACTGTGGGCCACGAG	0.617000													39	65					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152613356	152613356	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrX:152613356T>A	uc011myn.2	+	1	1926	c.1024T>A	c.(1024-1026)Tgc>Agc	p.C342S	ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.C342S|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	321						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCGGCGCTGCGAATGCAG	0.662000													47	17					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49485593	49485593	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:49485593A>G	uc002plp.3	-	6	1222	c.981T>C	c.(979-981)ttT>ttC	p.F327F	GYS1_uc010emm.3_Silent_p.F263F|GYS1_uc010xzz.2_Silent_p.F247F|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxf.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	327					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGCCGGCGATAAAGAAGTATA	0.542000													50	86					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:102825947A>G	uc003vbh.4	-	19	3239	c.1048T>C	c.(1048-1050)Tgt>Cgt	p.C350R	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		ACAGCTTGACACTTGCCATTG	0.373000													5	359					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134955076	134955076	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:134955076A>G	uc004cbe.2	-	0	199	c.156T>C	c.(154-156)ttT>ttC	p.F52F	MED27_uc004cbf.2_Silent_p.F52F|MED27_uc011mco.2_Silent_p.F52F|MED27_uc004cbg.4_Silent_p.F52F|MED27_uc022box.1_Silent_p.F52F	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	Homo sapiens mediator complex subunit 27 (MED27), transcript variant 1, mRNA.	52					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	p.F52F(6)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AGTGCGCAATAAAGGCCTTCT	0.647000													4	133					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678318	65678318	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:65678318T>G	uc002aou.1	-	17	3241	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	IGDCC4_uc002aot.1_Missense_Mutation_p.S599R	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1011						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCTGGGGGGCTGGGGGGGCCA	0.667000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133941690	133941690	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrX:133941690G>A	uc004exz.2	+	0	468	c.62G>A	c.(61-63)gGc>gAc	p.G21D	FAM122C_uc010nru.2_Missense_Mutation_p.G57D|FAM122C_uc004exx.3_Missense_Mutation_p.G21D|FAM122C_uc004exw.3_Missense_Mutation_p.G21D|FAM122C_uc011mvq.2_Non-coding_Transcript|FAM122C_uc022ceo.1_Missense_Mutation_p.G21D|FAM122C_uc004exy.2_Missense_Mutation_p.G21D|FAM122C_uc022cen.1_Missense_Mutation_p.G21D	NM_001170779	NP_001164250	Q6P4D5	F222C_HUMAN	Homo sapiens family with sequence similarity 122C (FAM122C), transcript variant 1, mRNA.	21										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					ACCGCAGACGGCAACATTCTG	0.542000													5	99					0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38282491	38282491	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:38282491A>G	uc002hub.3	+	1	240	c.221A>G	c.(220-222)aAc>aGc	p.N74S	MSL1_uc002hua.4_Missense_Mutation_p.N12S|MSL1_uc002huc.2_Missense_Mutation_p.N12S	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	275	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AAGAAGGATAACGAGAAAGAA	0.428000													86	99					0	0	1	0	0
LRRC69	100130742	broad.mit.edu	37	8	92145338	92145338	+	Splice_Site	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:92145338A>T	uc010mal.1	+	4	427	c.384_splice	c.e4-1	p.R128_splice	LRRC69_uc003yev.1_Intron|LRRC69_uc003yew.1_Splice_Site	NM_001129890	NP_001123362	Q6ZNQ3	LRC69_HUMAN	Homo sapiens leucine rich repeat containing 69 (LRRC69), mRNA.	128										endometrium(1)	1						TTTTTTTTAGATTAAAAAGTC	0.299000													5	27					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149213062	149213062	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:149213062G>A	uc003lrc.3	+	4	1517	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	PPARGC1B_uc003lrb.2_Missense_Mutation_p.V476M|PPARGC1B_uc003lrd.3_Missense_Mutation_p.V437M|PPARGC1B_uc021yfr.1_Missense_Mutation_p.V412M|PPARGC1B_uc003lre.1_Missense_Mutation_p.V455M|PPARGC1B_uc003lrf.3_Missense_Mutation_p.V455M	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	476					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTGTGCCCCGTGCGGCGTTC	0.637000													25	50					0	0	1	0	0
CCDC168	643677	broad.mit.edu	37	13	103401232	103401232	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:103401232C>G	uc001vpm.3	-	3	1955	c.1815G>C	c.(1813-1815)aaG>aaC	p.K605N		NM_001146197	NP_001139669			Homo sapiens coiled-coil domain containing 168 (CCDC168), mRNA.																		ACTCCTTTTCCTTTTTAGTAA	0.353000													59	95					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653718	43653718	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:43653718T>C	uc001zrk.1	-	4	2259	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	ZSCAN29_uc001zrj.1_Silent_p.K584K|ZSCAN29_uc010bdg.1_Silent_p.K314K|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	704					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATTTATAAGGTTTCTCTCCAG	0.438000													39	92					0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46703277	46703277	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:46703277C>T	uc002inx.3	-	0	559	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	119					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						AGCAGCGGCTCCGCCTTCACC	0.731000													7	23					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959108	78959108	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:78959108T>C	uc001din.3	+	1	946	c.680T>C	c.(679-681)cTt>cCt	p.L227P	PTGFR_uc001dim.3_Missense_Mutation_p.L227P	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	227					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAATTACACTTTTAAGAGTT	0.383000													37	83					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441549	37441549	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:37441549G>T	uc022bgv.1	-	0	1000	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M	ZBTB5_uc003zzx.3_Missense_Mutation_p.L334M	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGTGAGCTCAGGGGCTCAGAT	0.522000													11	30					0.010729	0.0107835	1	1	0
POLR3F	10621	broad.mit.edu	37	20	18448195	18448195	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:18448195G>A	uc002wqv.3	+	0	163	c.45G>A	c.(43-45)ccG>ccA	p.P15P	DZANK1_uc002wqr.4_5'Flank|DZANK1_uc002wqs.4_5'Flank|DZANK1_uc002wqq.4_5'Flank|DZANK1_uc010zsa.2_5'Flank|DZANK1_uc002wqu.1_5'Flank|DZANK1_uc010gct.1_5'Flank|POLR3F_uc002wqw.3_Non-coding_Transcript|POLR3F_uc002wqx.3_5'UTR	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.	15					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						ACGCGGATCCGGTCGAAATAG	0.622000													4	191					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578436	107578436	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:107578436C>T	uc004bcl.3	-	24	4130	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1242					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)	CTTCCAGGGTCGTCTCTGAGA	0.483000													41	56					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	987003	987003	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:987003C>A	uc001ack.2	+	31	5591	c.5541C>A	c.(5539-5541)ttC>ttA	p.F1847L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1847	EGF-like 4.				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)		CCGGGGGATTCTCAGGACCGC	0.711000													16	27					7.07596e-05	7.29708e-05	1	1	0
GPR133	283383	broad.mit.edu	37	12	131471648	131471648	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:131471648T>G	uc010tbm.2	+	6	1154	c.595T>G	c.(595-597)Tgg>Ggg	p.W199G	GPR133_uc001uit.4_Missense_Mutation_p.W167G	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	167					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGCCCCTATTGGACTCATGT	0.493000													23	80					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43294061	43294061	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:43294061G>T	uc001jaj.3	+	11	2593	c.2235G>T	c.(2233-2235)tgG>tgT	p.W745C		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	745					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCATGACTGGGATTTAGAGG	0.428000													5	148					0.00198382	0.00201434	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350033	100350033	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:100350033T>C	uc003uwj.3	+	13	2470	c.2305T>C	c.(2305-2307)Tcc>Ccc	p.S769P	ZAN_uc003uwk.3_Missense_Mutation_p.S769P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	769	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S769Y(1)		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)			ACCCACCATCTCCCCAGAAAA	0.522000													9	496					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214112	123214112	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:123214112C>T	uc001ucz.3	-	0	1018	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	259					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATGTGCAGGGCCCCATGGACA	0.522000													81	98					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:207787753C>T	uc001hfy.3	+	31	5370	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*	CR1_uc001hfx.3_Nonsense_Mutation_p.R2194*|CR1_uc021pij.1_Nonsense_Mutation_p.R1744*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1744	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													4	171					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517971	195517971	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:195517971T>A	uc021xjp.1	-	1	636	c.480A>T	c.(478-480)gaA>gaT	p.E160D	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E42D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	165					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)		GGGTAGAACTTTCAGTTCCTG	0.458000													42	57					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9605598	9605598	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:9605598C>T	uc003wss.3	+	17	2713	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	TNKS_uc011kww.2_Missense_Mutation_p.A666V|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	903					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)		GATAAGTGGGCGTTTACTCCC	0.468000													6	211					0	0	1	0	0
FAM186A	121006	broad.mit.edu	37	12	50746166	50746166	+	Silent	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:50746166G>C	uc001rwl.2	-	3	4587	c.4449C>G	c.(4447-4449)ctC>ctG	p.L1483L	FAM186A_uc010smt.1_Silent_p.L1261L	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	1483								p.L1483L(2)									GCGGAGGGATGAGAGGGATCC	0.647000													4	320					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67763107	67763107	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:67763107A>G	uc001omw.1	-	9	1415	c.1335T>C	c.(1333-1335)agT>agC	p.S445S		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	446					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGTTCAGGGCACTGCCCACAC	0.617000													4	106					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371139	240371139	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:240371139C>T	uc010pye.2	+	5	3264	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	FMN2_uc010pyd.2_Silent_p.P1009P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1009	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.731000													5	29					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6659179	6659179	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:6659179T>C	uc001aoa.3	-	1	1407	c.1355A>G	c.(1354-1356)gAc>gGc	p.D452G	KLHL21_uc001anz.1_Missense_Mutation_p.D452G|KLHL21_uc009vme.3_Missense_Mutation_p.D85G	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	452					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGGCCGCAGTCCACCAGCGA	0.642000													45	93					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727612	36727612	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:36727612C>A	uc002odq.4	+	3	1793	c.270C>A	c.(268-270)caC>caA	p.H90Q	ZNF146_uc010eet.3_Missense_Mutation_p.H90Q|ZNF146_uc010eeu.3_Missense_Mutation_p.H90Q|ZNF146_uc021ute.1_Missense_Mutation_p.H90Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCCTTACGCACCAGAAAATTC	0.403000													77	97					6.72169e-28	7.51918e-28	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85407685	85407685	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:85407685G>A	uc002ble.3	+	11	5285	c.5118G>A	c.(5116-5118)ctG>ctA	p.L1706L	ALPK3_uc010upc.2_Silent_p.L7L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1706	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCATCCCACTGTATCTGATCT	0.512000													40	70					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:320649G>A	uc001lpa.2	-	0	266	c.165C>T	c.(163-165)ccC>ccT	p.P55P	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	55					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P55P(10)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637000													3	69					0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425961	74425961	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:74425961G>A	uc010vmt.1	+	5	1133	c.1132G>A	c.(1132-1134)Gct>Act	p.A378T				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	439										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						CAAAACCCACGCTCCAAAAAC	0.318000													4	35					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86371557	86371557	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:86371557T>A	uc002sqz.4	-	14	2499	c.2111A>T	c.(2110-2112)gAg>gTg	p.E704V	IMMT_uc002sqy.4_Missense_Mutation_p.E445V|IMMT_uc010yte.2_Missense_Mutation_p.E657V|IMMT_uc002srb.4_Missense_Mutation_p.E693V|IMMT_uc002sra.4_Missense_Mutation_p.E703V|IMMT_uc010ytd.2_Missense_Mutation_p.E692V	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	704						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGCTAGCTCCAGATCACC	0.488000													40	86					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	T	C	rs139643347	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													4	62					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69072460	69072460	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:69072460T>C	uc011bfx.2	-	16	3406	c.3159A>G	c.(3157-3159)caA>caG	p.Q1053Q	TMF1_uc003dnn.3_Silent_p.Q1050Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	1050					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGTTGTACCTTTGATCCAAAT	0.299000													49	115					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:7727541A>T	uc003mxu.4	+	0	531	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	118					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(2)|p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													5	74					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741939	98741939	+	Silent	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:98741939T>G	uc001kmv.3	+	0	899	c.792T>G	c.(790-792)tcT>tcG	p.S264S	C10orf12_uc009xvg.2_Silent_p.S574S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAATCACCTCTCACGAGGAAG	0.512000													26	66					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285205	198285205	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:198285205T>A	uc002uue.3	-	3	410	c.362A>T	c.(361-363)aAg>aTg	p.K121M	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.K121M|SF3B1_uc002uug.3_Missense_Mutation_p.K121M	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	121					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.K120R(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGCCTATGCTTTTTGTATTC	0.373000			Mis		myelodysplastic syndrome								174	316					0	0	1	0	0
DQ596274	0	broad.mit.edu	37	15	85747441	85747441	+	RNA	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:85747441A>G	uc002blm.3	-	0		c.125T>C								Homo sapiens colon cancer-associated antigen AgSK1-2HT-ECS mRNA, complete cds.																		CCGCTGGCCAATATGTACTCA	0.597000													4	13					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:102825946C>T	uc003vbh.4	-	19	3240	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		GACAGCTTGACACTTGCCATT	0.373000													6	370					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183602604	183602604	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:183602604A>G	uc003fmd.3	-	0	90	c.31T>C	c.(31-33)Tgg>Cgg	p.W11R	PARL_uc003fme.3_Missense_Mutation_p.W11R	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	11					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCAGCCCCAGCCTCTCTGC	0.697000											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	18					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374713	47374713	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:47374713C>A	uc003crd.3	+	4	793	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	KLHL18_uc003crc.2_Missense_Mutation_p.L223M|KLHL18_uc011bav.2_Missense_Mutation_p.L111M|KLHL18_uc010hjq.2_Missense_Mutation_p.L74M	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	223	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTGCCTGAGCTGCTGTCCAA	0.572000													17	44					0.000229342	0.000235283	1	1	0
ASPM	259266	broad.mit.edu	37	1	197111690	197111690	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:197111690G>T	uc001gtu.3	-	2	1949	c.1692C>A	c.(1690-1692)ccC>ccA	p.P564P	ASPM_uc001gtv.3_Silent_p.P564P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	564					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTCGAAGAGGGTGTTACCT	0.343000													6	112					2.7689e-08	2.90075e-08	1	1	0
EML6	400954	broad.mit.edu	37	2	55191764	55191764	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:55191764C>A	uc002ryb.4	+	36	5438	c.5388C>A	c.(5386-5388)ttC>ttA	p.F1796L	EML6_uc002rya.3_Non-coding_Transcript	NM_001039753	NP_001034842	Q6ZMW3	EMAL6_HUMAN	Homo sapiens echinoderm microtubule associated protein like 6 (EML6), mRNA.	1796						cytoplasm|microtubule				breast(1)|endometrium(6)	7						CAGTTGACTTCTATGACCTCA	0.463000													59	93					3.8128e-34	4.31391e-34	1	1	0
VSTM2B	342865	broad.mit.edu	37	19	30018224	30018224	+	Silent	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:30018224T>A	uc010xrl.1	+	1	189	c.189T>A	c.(187-189)atT>atA	p.I63I	LOC284395_uc002nse.1_5'Flank	NM_001146339	NP_001139811	A6NLU5	VTM2B_HUMAN	Homo sapiens V-set and transmembrane domain containing 2B (VSTM2B), mRNA.	63	Ig-like V-type.					integral to membrane				breast(2)	2						CGCTGGAGATTCAGTGGTGGT	0.652000													16	18					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		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)			ACTGGACGCAGGcagcagcag	0.657000													4	99					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168249	49168249	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:49168249G>A	uc001rsh.4	-	12	2879	c.2219C>T	c.(2218-2220)gCa>gTa	p.A740V	ADCY6_uc001rsi.4_Missense_Mutation_p.A740V|ADCY6_uc001rsj.4_Missense_Mutation_p.A740V|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	740					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	p.R739L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTGCTATGTGCCCGTGAGCG	0.537000													72	77					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173317154	173317154	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:173317154T>G	uc003mcs.4	+	0	1824	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V	CPEB4_uc010jju.2_Missense_Mutation_p.L140V|CPEB4_uc010jjv.3_Missense_Mutation_p.L140V|CPEB4_uc011dfg.2_Missense_Mutation_p.L140V|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	140							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTCCAGTGTTGACAGGGTT	0.448000													7	99					0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	72011209	72011209	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:72011209C>G	uc010vmm.2	-	10	1685	c.1685G>C	c.(1684-1686)gGg>gCg	p.G562A		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						ATACTGGAACCCCAGGTAGAG	0.453000													29	40					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21630777	21630777	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:21630777G>T	uc001rex.3	-	7	1175	c.827C>A	c.(826-828)aCt>aAt	p.T276N	RECQL_uc001rey.3_Missense_Mutation_p.T276N	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	276					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGCTGTAAAAGTAAAACACTT	0.378000								Other identified genes with known or suspected DNA repair function					4	187					0.150653	0.150653	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360588	71360588	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:71360588T>G	uc002sht.2	+	1	1002	c.650T>G	c.(649-651)aTa>aGa	p.I217R	MPHOSPH10_uc010feb.1_Missense_Mutation_p.I217R	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	217					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTAGAAAACATAGAAAAAGAA	0.353000													136	203					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011289	2011289	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:2011289A>T	uc002cni.2	+	1	375	c.266A>T	c.(265-267)gAc>gTc	p.D89V	TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Missense_Mutation_p.D89V	NM_004548	NP_004539	O96000	NDUBA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA.	89					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	TGGAAGAGGGACTAGTACGTG	0.567000													29	51					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000													6	72					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071636	63071636	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:63071636A>G	uc009yor.3	+	7	1550	c.1342A>G	c.(1342-1344)Act>Gct	p.T448A	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.L241L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	448						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTGCTGCTACTTTTTCCAG	0.483000													22	45					0	0	1	0	0
TMEM86B	255043	broad.mit.edu	37	19	55740079	55740079	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:55740079T>C	uc002qju.3	-	0	554	c.31A>G	c.(31-33)Aag>Gag	p.K11E	TMEM86B_uc002qjt.3_5'UTR	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	Homo sapiens transmembrane protein 86B (TMEM86B), mRNA.	11					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)		CAGTGAGTCTTCAGGGTCTGC	0.672000													30	54					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112655819	112655819	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:112655819A>G	uc001kzh.3	+	10	1609	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	PDCD4_uc001kzg.3_Silent_p.K430K|PDCD4_uc010qre.2_Silent_p.K427K|PDCD4_uc021pye.1_5'Flank	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	441	MI 2.				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAATTTCCAAACAACTCAGAG	0.358000													57	118					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640923	142640923	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:142640923C>T	uc003wcb.3	-	13	1749	c.1539G>A	c.(1537-1539)cgG>cgA	p.R513R		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	513					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCGGAGGGACCGGACACAGC	0.562000													4	159					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr21:46011400G>A	uc002zfm.3	-	0	987	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(10)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692000													5	145					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3712967	3712967	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:3712967G>A	uc002cvt.4	-	15	1798	c.1709_splice	c.e15-1	p.A570_splice	TRAP1_uc002cvs.3_Splice_Site_p.A361_splice|TRAP1_uc010uxf.2_Splice_Site_p.A517_splice|BC095475_uc002cvu.3_Non-coding_Transcript	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	570					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGCACTCGGCGGCTGCGGAAG	0.642000													9	11					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84838960	84838960	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:84838960C>G	uc010fgb.3	+	21	3594	c.3457C>G	c.(3457-3459)Cga>Gga	p.R1153G		NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	1153	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAATGCTCTTCGAGCCGCTAC	0.428000													7	227					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651412	1651412	+	Silent	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:1651412G>C	uc001lty.3	+	0	380	c.342G>C	c.(340-342)ggG>ggC	p.G114G	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	114	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament		p.G114G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.706000													3	37					0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139694869	139694869	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:139694869A>G	uc021zfz.1	-	1	303	c.213T>C	c.(211-213)caT>caC	p.H71H	CITED2_uc021zga.1_Silent_p.H71H|CITED2_uc003qip.1_Silent_p.H71H|CITED2_uc021zgb.1_Silent_p.H71H	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	71					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCCCCATCGCATGCCTGATGC	0.672000													8	19					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492048	107492048	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:107492048G>A	uc010hpr.3	+	10	1807	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	BBX_uc003dwk.4_Missense_Mutation_p.A494T|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.A515T|BBX_uc003dwm.4_Missense_Mutation_p.A494T|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	494	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGAAGCCGTCGCAAAAGGAGA	0.483000													5	343					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44416377	44416377	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr18:44416377G>A	uc002lck.3	-	8	1332	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I	PIAS2_uc010dnp.3_Missense_Mutation_p.T80I|PIAS2_uc010xda.2_Missense_Mutation_p.T80I|PIAS2_uc002lcl.3_Missense_Mutation_p.T382I|PIAS2_uc002lcm.3_Missense_Mutation_p.T382I|PIAS2_uc002lcn.1_Missense_Mutation_p.T386I	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	382					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACAAATCCAGGTGGGCTTTTT	0.408000													33	242					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70039804	70039804	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:70039804A>T	uc010yqo.2	+	7	759	c.245A>T	c.(244-246)aAt>aTt	p.N82I	ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.N166I|ANXA4_uc002sfs.4_Missense_Mutation_p.N144I	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	164					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GATGAAGGAAATTATCTGGAC	0.443000													24	43					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32878681	32878681	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:32878681C>T	uc002xai.3	-	5	761	c.622G>A	c.(622-624)Gat>Aat	p.D208N	AHCY_uc002xaj.3_Missense_Mutation_p.D180N	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	208					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCATCACATCTGTGGCCCGC	0.587000													34	57					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906723	103906723	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:103906723G>A	uc001kum.3	+	8	4013	c.3974G>A	c.(3973-3975)cGc>cAc	p.R1325H	PPRC1_uc001kun.3_Missense_Mutation_p.R1205H|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AATGTCAAGCGCCATCAGGAC	0.602000													20	47					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984362	120984362	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:120984362C>A	uc001typ.4	+	1	795	c.312C>A	c.(310-312)agC>agA	p.S104R	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.S10R	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	104	Interaction with MEOX2.|Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGCAGCAGCAAACTCTTTA	0.453000													34	109					6.97489e-18	7.62999e-18	1	1	0
GALNT10	55568	broad.mit.edu	37	5	153755929	153755929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:153755929C>T	uc003lvh.3	+	4	793	c.661C>T	c.(661-663)Cga>Tga	p.R221*	GALNT10_uc003lvg.1_Nonsense_Mutation_p.R221*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GATAAGGACCCGAATGCTGGG	0.522000													51	82					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970233	74970233	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr14:74970233G>A	uc001xqa.3	-	31	5046	c.4659C>T	c.(4657-4659)tgC>tgT	p.C1553C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1553	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGGGGCTGCAGAAGCAGT	0.652000													3	28					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166000935	166000935	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:166000935G>T	uc003iqz.4	-	5	790	c.691C>A	c.(691-693)Cta>Ata	p.L231I		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	Homo sapiens transmembrane protein 192 (TMEM192), mRNA.	231						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		ATTTCTTCTAGGCTTGAAATA	0.388000													24	45					7.92952e-12	8.48673e-12	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113474213	113474213	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:113474213G>A	uc001vsj.4	+	8	763	c.675_splice	c.e8-1	p.K225_splice	ATP11A_uc001vsi.4_Splice_Site_p.K225_splice|ATP11A_uc001vsm.1_Splice_Site_p.K101_splice	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	225					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				TCTGTCGCCAGGTTCGTGGGT	0.637000													14	30					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139135653	139135653	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:139135653T>C	uc003qif.2	+	3	417	c.92T>C	c.(91-93)aTa>aCa	p.I31T	ECT2L_uc021zfx.1_Missense_Mutation_p.I31T|ECT2L_uc011edq.1_5'UTR	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	31					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCTCTTATAAGTCATTGG	0.368000			"""N, Splice, Mis"""		ETP ALL								36	54					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881586	207881586	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:207881586C>G	uc001hga.4	+	9	1513	c.1392C>G	c.(1390-1392)agC>agG	p.S464R	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	464	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATTGGAGCATGAAGCCAC	0.428000													20	170					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868821	7868821	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrX:7868821A>G	uc011mhq.1	-	6	830	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_uc011mhr.1_Missense_Mutation_p.L223P|PNPLA4_uc011mhs.1_Missense_Mutation_p.L136P	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	223					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353000													5	305					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233518	27233518	+	Splice_Site	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:27233518A>T	uc010hfk.3	-	5	670	c.441_splice	c.e5+1	p.H147_splice	NEK10_uc003cds.1_Splice_Site_p.H232_splice|NEK10_uc010hfj.3_Splice_Site_p.H147_splice			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	835							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTTGCACTTACGTGAGATAG	0.413000													36	72					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103277	168103277	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:168103277T>A	uc002udx.3	+	8	5464	c.5375T>A	c.(5374-5376)cTg>cAg	p.L1792Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.L1617Q|XIRP2_uc010fpq.3_Missense_Mutation_p.L1570Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1617					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						AAACTGTTACTGAAGAAAAGG	0.408000													69	174					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82575198	82575198	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:82575198C>A	uc002bgv.3	+	2	1061	c.992C>A	c.(991-993)aCa>aAa	p.T331K	FAM154B_uc010unr.2_Missense_Mutation_p.T316K|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	331										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTGATCCCAACAGAGAGTTGC	0.388000													121	238					1.24098e-62	1.42032e-62	1	1	0
MUC2	4583	broad.mit.edu	37	11	1092948	1092948	+	Silent	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:1092948C>G	uc001lsx.1	+	30	4794	c.4767C>G	c.(4765-4767)acC>acG	p.T1589T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1594	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590T(2)|p.T1589T(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccaccactacggtga	0.627000													3	43					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043550	108043550	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:108043550C>T	uc001pjz.4	-	12	2263	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.D516N	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	721					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGTTTATCATCAGTATTTTGG	0.428000													19	40					0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11575733	11575733	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:11575733G>T	uc010jpa.3	+	2	338	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	Homo sapiens transmembrane protein 170B (TMEM170B), mRNA.	113						integral to membrane				large_intestine(3)|lung(5)	8						CTGGTATGGGGCGTTGGACAG	0.473000													32	82					1.22384e-17	1.33143e-17	1	1	0
SGK196	84197	broad.mit.edu	37	8	42977953	42977953	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:42977953A>G	uc003xpw.2	+	4	1245	c.986A>G	c.(985-987)gAg>gGg	p.E329G		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	329	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GACGTTCTGGAGACCTACCAG	0.478000													17	38					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515052	195515052	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:195515052G>C	uc021xjp.1	-	1	3555	c.3399C>G	c.(3397-3399)caC>caG	p.H1133Q	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1010					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H1133Q(2)		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)		GAGAGGTGGCGTGACCTGTGG	0.567000													5	78					0	0	1	0	0
VWDE	221806	broad.mit.edu	37	7	12375822	12375822	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:12375822A>C	uc003ssj.2	-	26	5109	c.4599T>G	c.(4597-4599)atT>atG	p.I1533M	VWDE_uc011jxl.1_Non-coding_Transcript|VWDE_uc011jxm.1_Missense_Mutation_p.I987M	NM_001135924	NP_001129396	Q8N2E2	VWDE_HUMAN	Homo sapiens von Willebrand factor D and EGF domains (VWDE), mRNA.	1533	EGF-like 6.					extracellular region				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TGCTGGGCGCAATGCATTCAC	0.393000													106	137					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130912744	130912744	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:130912744G>A	uc002tqq.2	-	14	2644	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	SMPD4_uc002tqo.2_5'UTR|SMPD4_uc002tqp.2_Missense_Mutation_p.P238S|SMPD4_uc010yzy.2_Missense_Mutation_p.P248S|SMPD4_uc010yzz.2_Missense_Mutation_p.P163S|SMPD4_uc002tqs.2_Missense_Mutation_p.P367S|SMPD4_uc002tqr.2_Missense_Mutation_p.P470S|SMPD4_uc010zaa.2_Missense_Mutation_p.P357S|SMPD4_uc010zab.2_Missense_Mutation_p.P397S|SMPD4_uc002tqt.2_Missense_Mutation_p.P348S|SMPD4_uc010zac.2_Missense_Mutation_p.P240S|SMPD4_uc010zad.2_Missense_Mutation_p.P135S	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	460					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGTGCTTGGGGCTGACCAGG	0.597000													20	49					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40251678	40251678	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:40251678A>G	uc001uxh.2	+	4	602	c.502A>G	c.(502-504)Agt>Ggt	p.S168G	COG6_uc001uxi.2_Missense_Mutation_p.S116G|COG6_uc010acb.2_Missense_Mutation_p.S168G	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	168					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGATGAAATGAGTCTTCTCCG	0.348000													28	64					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15226103	15226103	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:15226103A>G	uc002nam.3	-	15	1980	c.1859T>C	c.(1858-1860)aTt>aCt	p.I620T		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	620						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CGTCCTCCCAATGAGGATGTT	0.607000													17	48					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34261469	34261469	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr18:34261469A>G	uc021uiv.1	+	14	2003	c.1906A>G	c.(1906-1908)Agg>Ggg	p.R636G	FHOD3_uc002kzr.1_Missense_Mutation_p.R461G|FHOD3_uc002kzs.1_Missense_Mutation_p.R461G|FHOD3_uc002kzt.1_Missense_Mutation_p.R461G|FHOD3_uc010dmz.1_Missense_Mutation_p.R176G	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	461					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGAGAGAGAGAGGCGGCGGCA	0.443000													5	235					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276851	71276851	+	Missense_Mutation	SNP	A	A	G	rs36179995		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:71276851A>G	uc001oqt.1	+	0	243	c.218A>G	c.(217-219)gAc>gGc	p.D73G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	73	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAGGGGGACTGTGGCTCT	0.672000													6	55					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54447788	54447788	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:54447788T>A	uc001seu.3	+	2	762	c.82T>A	c.(82-84)Tac>Aac	p.Y28N	HOXC4_uc001sex.3_Missense_Mutation_p.Y28N	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCAAAATAGCTACATCCCTGA	0.493000													34	137					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37898635	37898635	+	Silent	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr22:37898635C>G	uc003asx.1	-	10	1778	c.1761G>C	c.(1759-1761)cgG>cgC	p.R587R	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.R301R|CARD10_uc003asy.1_Silent_p.R587R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	587					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R587G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCACAGCCCCGAGCCAGGA	0.617000													17	32					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113303701	113303701	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:113303701A>T	uc003ian.4	+	3	496	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	ALPK1_uc003iam.3_Missense_Mutation_p.Q90L|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.Q90L|ALPK1_uc011cfx.2_Intron|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	90							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGGTTGCAGCAGTTACTGGTA	0.483000													73	111					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065116	63065116	+	Silent	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:63065116A>T	uc009yor.3	+	3	955	c.747A>T	c.(745-747)ggA>ggT	p.G249G	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	249						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAATCCTGGGAGGCTTGGCTT	0.463000													52	77					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285207	198285207	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:198285207T>C	uc002uue.3	-	3	408	c.360A>G	c.(358-360)aaA>aaG	p.K120K	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Silent_p.K120K|SF3B1_uc002uug.3_Silent_p.K120K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	120					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.K120R(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCTATGCTTTTTGTATTCAT	0.373000			Mis		myelodysplastic syndrome								168	312					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr22:20385733A>G	uc010gsf.1	-	12		c.2078T>C			PI4KAP1_uc010gsg.2_Non-coding_Transcript					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		TACTTCAAGAACTTGATTGTC	0.537000													6	584					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160964158	160964158	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:160964158C>T	uc003feb.1	+	11	1171	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	NMD3_uc003fec.3_Missense_Mutation_p.S351F|NMD3_uc003fed.1_Missense_Mutation_p.S351F|NMD3_uc010hwh.3_Missense_Mutation_p.S171F	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	351					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAGAAGACATCTGAAATGAAT	0.353000													26	41					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959111	78959111	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:78959111T>C	uc001din.3	+	1	949	c.683T>C	c.(682-684)tTa>tCa	p.L228S	PTGFR_uc001dim.3_Missense_Mutation_p.L228S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	228					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTACACTTTTAAGAGTTAAA	0.388000													36	81					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874404	36874404	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:36874404T>C	uc002xhy.1	-	1	400	c.128A>G	c.(127-129)gAt>gGt	p.D43G	KIAA1755_uc002xhz.1_Missense_Mutation_p.D43G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	43										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)				GCTCAGCCCATCCCCCTGGAA	0.602000													3	66					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841357	4841357	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:4841357G>A	uc003snj.1	-	11	2942	c.2769C>T	c.(2767-2769)ggC>ggT	p.G923G	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.G428G|RADIL_uc011jwc.1_Silent_p.G683G|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Silent_p.G219G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	923	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACAGGGGCCGCCGGACTCTG	0.711000													93	144					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583589	7583589	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:7583589G>A	uc003mxp.1	+	23	6373	c.6094G>A	c.(6094-6096)Gta>Ata	p.V2032I	DSP_uc003mxq.1_Missense_Mutation_p.V1433I|DSP_uc021yle.1_Missense_Mutation_p.V1589I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2032	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATACTCTTTGGTAGAGGCCAA	0.478000													29	76					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120320001	120320001	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:120320001A>G	uc003edu.3	+	1	303	c.224A>G	c.(223-225)aAt>aGt	p.N75S	NDUFB4_uc003edt.3_Missense_Mutation_p.N75S	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	75					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AGAACAATAAATGTCTATCCT	0.363000													57	87					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369834	1369834	+	Silent	SNP	G	G	A	rs114098503	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:1369834G>A	uc003gde.4	+	9	1893	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	UVSSA_uc010ibv.3_Silent_p.A33A	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	482																	CCTCCAGAGCGTTGCCAGAGC	0.697000													28	46					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131095205	131095205	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:131095205G>A	uc004bur.4	+	5	956	c.609G>A	c.(607-609)ccG>ccA	p.P203P	COQ4_uc010mxy.3_Silent_p.P179P	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	203					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						TCTTTGGACCGATCCGACTTG	0.557000													56	100					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881585	207881585	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:207881585G>T	uc001hga.4	+	9	1512	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	464	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCATTGGAGCATGAAGCCA	0.423000													20	173					6.26901e-30	7.05264e-30	1	1	0
SLC13A3	64849	broad.mit.edu	37	20	45217868	45217868	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:45217868A>G	uc002xsf.2	-	6	987	c.947T>C	c.(946-948)aTa>aCa	p.I316T	SLC13A3_uc010ghn.2_Missense_Mutation_p.I285T|SLC13A3_uc010zxx.2_Missense_Mutation_p.I218T|SLC13A3_uc010zxw.2_Missense_Mutation_p.I266T|SLC13A3_uc002xsg.2_Missense_Mutation_p.I269T|SLC13A3_uc010gho.2_Missense_Mutation_p.I269T	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTGGTTCTTATCTCAGATTT	0.488000													31	99					0	0	1	0	0
NEAT1	283131	broad.mit.edu	37	11	65190322	65190322	+	RNA	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:65190322T>A	uc010rog.2	+	0		c.54T>A								Homo sapiens nuclear paraspeckle assembly transcript 1 (non-protein coding) (NEAT1), non-coding RNA.																		GGGGAGGAAGTGGCTAGCTCA	0.597000													11	16					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118017	118017	+	RNA	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrGL000205.1:118017G>A	uc002kgk.4	+	0		c.1395G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCAGAATACGAGGGGCAGCC	0.562000													6	107					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58503225	58503225	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:58503225G>A	uc002iyq.3	+	1	222	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	45								p.S45Y(1)		breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CAAGGGCCTGGATCAGGACAC	0.587000													52	49					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541949	18541949	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:18541949A>G	uc002gud.2	-	6	676	c.264T>C	c.(262-264)taT>taC	p.Y88Y		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	88						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TGGTGCTCCTATATTTTGTCC	0.542000													43	66					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898190	12898190	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:12898190A>G	uc002gnz.4	-	20	2037	c.1920T>C	c.(1918-1920)tgT>tgC	p.C640C	ELAC2_uc002gnu.4_Silent_p.C37C|ELAC2_uc002gnv.4_Silent_p.C268C|ELAC2_uc002gnx.4_Silent_p.C400C|ELAC2_uc010vvo.2_Silent_p.C438C|ELAC2_uc010vvp.2_Silent_p.C621C|ELAC2_uc010vvq.2_Silent_p.C639C|ELAC2_uc010vvr.2_Silent_p.C600C	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	640					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGCACCAGACAGGTCTGAA	0.622000													57	58					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:95825254C>T	uc001pfw.1	-	1	3226	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	647					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q647Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								4	62					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992806	124992806	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:124992806G>A	uc003yqw.3	+	10	1371	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	389						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGCTTTGGGGAAGGTGTGTC	0.512000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	153					0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100478514	100478514	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:100478514C>T	uc003huy.3	-	3	721	c.408G>A	c.(406-408)ctG>ctA	p.L136L	RG9MTD2_uc003huz.4_Silent_p.L136L|RG9MTD2_uc003hva.4_Silent_p.L136L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	136							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GCACAGGATGCAGTGCCCGTC	0.343000													4	128					0	0	1	0	0
FAM205B	389715	broad.mit.edu	37	9	34834937	34834937	+	Silent	SNP	A	A	G	rs116941218	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:34834937A>G	uc003zvp.4	-	3	1457	c.543T>C	c.(541-543)ctT>ctC	p.L181L						Homo sapiens family with sequence similarity 205, member B (FAM205B), non-coding RNA.									p.L184L(2)									CAATCTTGGGAAGGCCTTGAG	0.517000													9	116					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407915	139407915	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:139407915G>T	uc004chz.3	-	13	2282	c.2282C>A	c.(2281-2283)cCt>cAt	p.P761H	NOTCH1_uc004cia.1_5'UTR	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	761	EGF-like 20.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGACACAAGGGTTGGATTC	0.587000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	40					1.33834e-09	1.41706e-09	1	1	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	88325	88325	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrGL000219.1:88325G>T	uc022brb.1	-	2	319	c.6C>A	c.(4-6)gtC>gtA	p.V2V	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		AGGGTAAAAAGACCATTGTCG	0.413000													12	145					6.33239e-15	6.85143e-15	1	1	0
SOX5	6660	broad.mit.edu	37	12	23757377	23757377	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:23757377A>G	uc001rfw.3	-	8	1210	c.1108T>C	c.(1108-1110)Tct>Cct	p.S370P	SOX5_uc001rfx.3_Missense_Mutation_p.S357P|SOX5_uc001rfy.3_Missense_Mutation_p.S357P|SOX5_uc010siv.2_Missense_Mutation_p.S357P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.S322P	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	370					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S370F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGTAGGAGATACAGCAGCA	0.502000													28	74					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227264	136227264	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:136227264G>T	uc004cdi.2	+	4	689	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	214							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GATGAGAGCAGGAGAGAGACG	0.557000													16	26					1.45105e-14	1.56146e-14	1	1	0
NAB2	4665	broad.mit.edu	37	12	57485520	57485520	+	Silent	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:57485520T>G	uc001smz.3	+	1	1074	c.696T>G	c.(694-696)ggT>ggG	p.G232G		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	232					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.G232D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGACTGGGGGTGGTCCAGACC	0.667000													4	122					0	0	1	0	0
VSTM2B	342865	broad.mit.edu	37	19	30018225	30018225	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:30018225C>A	uc010xrl.1	+	1	190	c.190C>A	c.(190-192)Cag>Aag	p.Q64K	LOC284395_uc002nse.1_5'Flank	NM_001146339	NP_001139811	A6NLU5	VTM2B_HUMAN	Homo sapiens V-set and transmembrane domain containing 2B (VSTM2B), mRNA.	64	Ig-like V-type.					integral to membrane				breast(2)	2						GCTGGAGATTCAGTGGTGGTA	0.657000													13	20					6.72482e-11	7.15868e-11	1	1	0
MUC4	4585	broad.mit.edu	37	3	195515038	195515038	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:195515038G>A	uc021xjp.1	-	1	3569	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1015					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.F1137L(1)|p.P1138L(1)		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)		GTCGGTGACAGGAAGAGAGGT	0.567000													5	59					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:23728528C>T	uc002wtp.3	-	2	422	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(2)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	106					0	0	1	0	0
PRRT4	401399	broad.mit.edu	37	7	127991277	127991277	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:127991277C>G	uc022aky.1	-	5	2647	c.2333G>C	c.(2332-2334)gGg>gCg	p.G778A	PRRT4_uc022akx.1_3'UTR	NM_001174164	NP_001167635	C9JH25	PRRT4_HUMAN	Homo sapiens proline-rich transmembrane protein 4 (PRRT4), transcript variant 1, mRNA.	778						integral to membrane				endometrium(4)|prostate(1)	5						AGAGGCCTCCCCTGATCTCTC	0.731000													20	30					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425407	72425407	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:72425407G>A	uc009zrw.1	+	10	1546	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	TPH2_uc001swy.2_Missense_Mutation_p.D379N	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	469					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGTGGTGCAGGACCTTCGCAG	0.413000													5	205					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374712	47374712	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:47374712G>T	uc003crd.3	+	4	792	c.666G>T	c.(664-666)gaG>gaT	p.E222D	KLHL18_uc003crc.2_Missense_Mutation_p.E222D|KLHL18_uc011bav.2_Missense_Mutation_p.E110D|KLHL18_uc010hjq.2_Missense_Mutation_p.E73D	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	222	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACCTGCCTGAGCTGCTGTCCA	0.572000													15	44					7.21436e-19	7.9358e-19	1	1	0
PTPN3	5774	broad.mit.edu	37	9	112185015	112185015	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:112185015A>G	uc004bed.2	-	12	1231	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	PTPN3_uc004beb.2_Silent_p.P242P|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Silent_p.P86P|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	373					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAGTAATGGGAGGGGAACGAG	0.413000													6	60					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228520936	228520936	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:228520936G>C	uc009xez.1	+	57	15812	c.15768G>C	c.(15766-15768)gaG>gaC	p.E5256D	OBSCN_uc001hsn.3_Missense_Mutation_p.E5256D|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5256					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)				CCACTGATGAGGGCCAGCTGC	0.632000													41	75					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447157	226447157	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:226447157G>A	uc002voe.2	+	3	1199	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.A112T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	342	Pro-rich.																ATTTCCCCCCGCCCCCGTGCA	0.632000													5	77					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85407685	85407685	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr15:85407685G>A	uc002ble.3	+	11	5285	c.5118G>A	c.(5116-5118)ctG>ctA	p.L1706L	ALPK3_uc010upc.2_Silent_p.L7L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1706	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCATCCCACTGTATCTGATCT	0.512000													40	70					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38343988	38343988	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:38343988A>G	uc001ccf.1	-	9	1094	c.1057T>C	c.(1057-1059)Tgc>Cgc	p.C353R	INPP5B_uc009vvk.1_Missense_Mutation_p.C458R|INPP5B_uc001ccg.1_Missense_Mutation_p.C517R|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	597					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCACGGCACTTCTCACTG	0.547000													16	50					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183594619	183594619	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:183594619G>T	uc002uow.1	+	7	1093	c.678G>T	c.(676-678)gtG>gtT	p.V226V	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.V226V|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	226	Thioredoxin 1.				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)			AGAGTTTAGTGAGTTTTGCAA	0.323000													92	184					8.32725e-61	9.54291e-61	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040126	31040126	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:31040126C>G	uc002nsu.1	+	3	3738	c.3600C>G	c.(3598-3600)gaC>gaG	p.D1200E	ZNF536_uc010edd.1_Missense_Mutation_p.D1200E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCAAAGACAGCAGCAGCG	0.592000													21	45					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958793	152958793	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrX:152958793T>C	uc004fib.3	+	5	1266	c.988T>C	c.(988-990)Tac>Cac	p.Y330H	SLC6A8_uc004fic.3_Missense_Mutation_p.Y330H|SLC6A8_uc011myx.1_Missense_Mutation_p.Y215H|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	330					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S329C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCTGGGCAGCTACAACCGCTT	0.632000													3	85					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219529245	219529245	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:219529245G>A	uc002vit.3	-	9	903	c.815C>T	c.(814-816)gCg>gTg	p.A272V	RNF25_uc010fvw.3_Missense_Mutation_p.A160V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	272					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGTTCCGCAGGGGCAGG	0.552000													3	30					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98667795	98667795	+	Silent	SNP	A	A	T	rs61750357		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr13:98667795A>T	uc001vne.3	+	22	2571	c.2391A>T	c.(2389-2391)gtA>gtT	p.V797V		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	779					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCATTGAAGTAATGGGAGATG	0.348000													53	87					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69072460	69072460	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:69072460T>C	uc011bfx.2	-	16	3406	c.3159A>G	c.(3157-3159)caA>caG	p.Q1053Q	TMF1_uc003dnn.3_Silent_p.Q1050Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	1050					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGTTGTACCTTTGATCCAAAT	0.299000													49	115					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018324	176018324	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr5:176018324G>A	uc021yie.1	+	29	3927	c.3653_splice	c.e29+1	p.R1218_splice	CDHR2_uc003mem.2_Splice_Site_p.R1218_splice|CDHR2_uc003men.1_Splice_Site_p.R1218_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1218					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						AACACTGAGCGGTGAGCAGGG	0.597000													37	67					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436719	436719	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr4:436719A>G	uc003gaf.4	-	2	1859	c.1633T>C	c.(1633-1635)Tcc>Ccc	p.S545P	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.S513P|ABCA11P_uc010ibe.3_Missense_Mutation_p.S501P	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		AGGGTTGTGGAACTAGTAAAC	0.398000													33	72					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874782	144874782	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:144874782C>T	uc021ouh.1	-	29	5128	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1609N|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1565N|PDE4DIP_uc001elv.4_Missense_Mutation_p.S616N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1609	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAAGAGGTGCTGCTGGGAGA	0.537000			T	PDGFRB	MPD								21	121					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740214	110740214	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:110740214A>G	uc009wfq.3	+	10	2269	c.1808A>G	c.(1807-1809)aAg>aGg	p.K603R		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	603					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCCTGGATCAAGGAGGAGGTG	0.582000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	10					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563146	45563146	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr21:45563146T>G	uc002zec.4	+	5	667	c.581T>G	c.(580-582)gTg>gGg	p.V194G	C21orf33_uc002zed.4_Missense_Mutation_p.V163G	NM_004649	NP_004640	P30042	ES1_HUMAN	Homo sapiens chromosome 21 open reading frame 33 (C21orf33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	194						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAGGTGACTGTGGGCCACGAG	0.617000													39	65					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:102825947A>G	uc003vbh.4	-	19	3239	c.1048T>C	c.(1048-1050)Tgt>Cgt	p.C350R	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		ACAGCTTGACACTTGCCATTG	0.373000													5	359					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133941690	133941690	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrX:133941690G>A	uc004exz.2	+	0	468	c.62G>A	c.(61-63)gGc>gAc	p.G21D	FAM122C_uc010nru.2_Missense_Mutation_p.G57D|FAM122C_uc004exx.3_Missense_Mutation_p.G21D|FAM122C_uc004exw.3_Missense_Mutation_p.G21D|FAM122C_uc011mvq.2_Non-coding_Transcript|FAM122C_uc022ceo.1_Missense_Mutation_p.G21D|FAM122C_uc004exy.2_Missense_Mutation_p.G21D|FAM122C_uc022cen.1_Missense_Mutation_p.G21D	NM_001170779	NP_001164250	Q6P4D5	F222C_HUMAN	Homo sapiens family with sequence similarity 122C (FAM122C), transcript variant 1, mRNA.	21										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					ACCGCAGACGGCAACATTCTG	0.542000													5	99					0	0	1	0	0
LRRC69	100130742	broad.mit.edu	37	8	92145338	92145338	+	Splice_Site	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:92145338A>T	uc010mal.1	+	4	427	c.384_splice	c.e4-1	p.R128_splice	LRRC69_uc003yev.1_Intron|LRRC69_uc003yew.1_Splice_Site	NM_001129890	NP_001123362	Q6ZNQ3	LRC69_HUMAN	Homo sapiens leucine rich repeat containing 69 (LRRC69), mRNA.	128										endometrium(1)	1						TTTTTTTTAGATTAAAAAGTC	0.299000													5	27					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228520936	228520936	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:228520936G>C	uc009xez.1	+	57	15812	c.15768G>C	c.(15766-15768)gaG>gaC	p.E5256D	OBSCN_uc001hsn.3_Missense_Mutation_p.E5256D|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5256					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)				CCACTGATGAGGGCCAGCTGC	0.632000													41	75					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653718	43653718	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr15:43653718T>C	uc001zrk.1	-	4	2259	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	ZSCAN29_uc001zrj.1_Silent_p.K584K|ZSCAN29_uc010bdg.1_Silent_p.K314K|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	704					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATTTATAAGGTTTCTCTCCAG	0.438000													39	92					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959108	78959108	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:78959108T>C	uc001din.3	+	1	946	c.680T>C	c.(679-681)cTt>cCt	p.L227P	PTGFR_uc001dim.3_Missense_Mutation_p.L227P	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	227					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAATTACACTTTTAAGAGTT	0.383000													37	83					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18448195	18448195	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr20:18448195G>A	uc002wqv.3	+	0	163	c.45G>A	c.(43-45)ccG>ccA	p.P15P	DZANK1_uc002wqr.4_5'Flank|DZANK1_uc002wqs.4_5'Flank|DZANK1_uc002wqq.4_5'Flank|DZANK1_uc010zsa.2_5'Flank|DZANK1_uc002wqu.1_5'Flank|DZANK1_uc010gct.1_5'Flank|POLR3F_uc002wqw.3_Non-coding_Transcript|POLR3F_uc002wqx.3_5'UTR	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.	15					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						ACGCGGATCCGGTCGAAATAG	0.622000													4	191					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578436	107578436	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr9:107578436C>T	uc004bcl.3	-	24	4130	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1242					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)	CTTCCAGGGTCGTCTCTGAGA	0.483000													41	56					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	987003	987003	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:987003C>A	uc001ack.2	+	31	5591	c.5541C>A	c.(5539-5541)ttC>ttA	p.F1847L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1847	EGF-like 4.				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)		CCGGGGGATTCTCAGGACCGC	0.711000													16	27					7.07596e-05	7.26095e-05	1	1	0
BMS1	9790	broad.mit.edu	37	10	43294061	43294061	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr10:43294061G>T	uc001jaj.3	+	11	2593	c.2235G>T	c.(2233-2235)tgG>tgT	p.W745C		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	745					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCATGACTGGGATTTAGAGG	0.428000													5	148					0.00198382	0.00200942	1	1	0
MUC4	4585	broad.mit.edu	37	3	195517971	195517971	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:195517971T>A	uc021xjp.1	-	1	636	c.480A>T	c.(478-480)gaA>gaT	p.E160D	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E42D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	165					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)		GGGTAGAACTTTCAGTTCCTG	0.458000													42	57					0	0	1	0	0
HBQ1	3049	broad.mit.edu	37	16	230679	230679	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr16:230679T>C	uc002cfz.3	+	1	263	c.110T>C	c.(109-111)tTc>tCc	p.F37S		NM_005331	NP_005322	P09105	HBAT_HUMAN	Homo sapiens hemoglobin, theta 1 (HBQ1), mRNA.	37						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TTCCTGGCTTTCCCCGCCACG	0.721000													4	36					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984362	120984362	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:120984362C>A	uc001typ.4	+	1	795	c.312C>A	c.(310-312)agC>agA	p.S104R	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.S10R	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	104	Interaction with MEOX2.|Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGCAGCAGCAAACTCTTTA	0.453000													34	109					6.97489e-18	7.71167e-18	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149213062	149213062	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr5:149213062G>A	uc003lrc.3	+	4	1517	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	PPARGC1B_uc003lrb.2_Missense_Mutation_p.V476M|PPARGC1B_uc003lrd.3_Missense_Mutation_p.V437M|PPARGC1B_uc021yfr.1_Missense_Mutation_p.V412M|PPARGC1B_uc003lre.1_Missense_Mutation_p.V455M|PPARGC1B_uc003lrf.3_Missense_Mutation_p.V455M	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	476					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTGTGCCCCGTGCGGCGTTC	0.637000													25	50					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9605598	9605598	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:9605598C>T	uc003wss.3	+	17	2713	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	TNKS_uc011kww.2_Missense_Mutation_p.A666V|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	903					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)		GATAAGTGGGCGTTTACTCCC	0.468000													6	211					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558409	159558409	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:159558409A>C	uc001ftv.3	+	1	679	c.583A>C	c.(583-585)Acc>Ccc	p.T195P		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	195	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.T195P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CTATCAGGGTACCCCTCTCCC	0.502000													7	121					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67763107	67763107	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:67763107A>G	uc001omw.1	-	9	1415	c.1335T>C	c.(1333-1335)agT>agC	p.S445S		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	446					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGTTCAGGGCACTGCCCACAC	0.617000													4	106					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6659179	6659179	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:6659179T>C	uc001aoa.3	-	1	1407	c.1355A>G	c.(1354-1356)gAc>gGc	p.D452G	KLHL21_uc001anz.1_Missense_Mutation_p.D452G|KLHL21_uc009vme.3_Missense_Mutation_p.D85G	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	452					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGGCCGCAGTCCACCAGCGA	0.642000													45	93					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144621522	144621522	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:144621522A>C	uc009wig.1	+	7	1042	c.848A>C	c.(847-849)gAg>gCg	p.E283A	NBPF10_uc010oxo.1_Missense_Mutation_p.E285A|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.E216A|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.E14A	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	285										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAGGCAGAGATGAACATT	0.488000													3	28					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152613356	152613356	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrX:152613356T>A	uc011myn.2	+	1	1926	c.1024T>A	c.(1024-1026)Tgc>Agc	p.C342S	ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.C342S|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	321						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCGGCGCTGCGAATGCAG	0.662000													47	17					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30403186	30403186	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr22:30403186A>C	uc003agv.4	+	9	1083	c.755A>C	c.(754-756)cAt>cCt	p.H252P	MTMR3_uc003agu.4_Missense_Mutation_p.H252P|MTMR3_uc003agw.4_Missense_Mutation_p.H252P	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	252	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATGATGAGCATCTGGTACAG	0.547000													24	57					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217868	45217868	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr20:45217868A>G	uc002xsf.2	-	6	987	c.947T>C	c.(946-948)aTa>aCa	p.I316T	SLC13A3_uc010ghn.2_Missense_Mutation_p.I285T|SLC13A3_uc010zxx.2_Missense_Mutation_p.I218T|SLC13A3_uc010zxw.2_Missense_Mutation_p.I266T|SLC13A3_uc002xsg.2_Missense_Mutation_p.I269T|SLC13A3_uc010gho.2_Missense_Mutation_p.I269T	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTGGTTCTTATCTCAGATTT	0.488000													31	99					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr6:7727541A>T	uc003mxu.4	+	0	531	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	118					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(2)|p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													5	74					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:102825946C>T	uc003vbh.4	-	19	3240	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		GACAGCTTGACACTTGCCATT	0.373000													6	370					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374713	47374713	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:47374713C>A	uc003crd.3	+	4	793	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	KLHL18_uc003crc.2_Missense_Mutation_p.L223M|KLHL18_uc011bav.2_Missense_Mutation_p.L111M|KLHL18_uc010hjq.2_Missense_Mutation_p.L74M	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	223	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTGCCTGAGCTGCTGTCCAA	0.572000													17	44					0.000229342	0.000233809	1	1	0
ASPM	259266	broad.mit.edu	37	1	197111690	197111690	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:197111690G>T	uc001gtu.3	-	2	1949	c.1692C>A	c.(1690-1692)ccC>ccA	p.P564P	ASPM_uc001gtv.3_Silent_p.P564P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	564					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTCGAAGAGGGTGTTACCT	0.343000													6	112					2.7689e-08	2.89811e-08	1	1	0
EML6	400954	broad.mit.edu	37	2	55191764	55191764	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:55191764C>A	uc002ryb.4	+	36	5438	c.5388C>A	c.(5386-5388)ttC>ttA	p.F1796L	EML6_uc002rya.3_Non-coding_Transcript	NM_001039753	NP_001034842	Q6ZMW3	EMAL6_HUMAN	Homo sapiens echinoderm microtubule associated protein like 6 (EML6), mRNA.	1796						cytoplasm|microtubule				breast(1)|endometrium(6)	7						CAGTTGACTTCTATGACCTCA	0.463000													59	93					3.8128e-34	4.33775e-34	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15226103	15226103	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:15226103A>G	uc002nam.3	-	15	1980	c.1859T>C	c.(1858-1860)aTt>aCt	p.I620T		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	620						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CGTCCTCCCAATGAGGATGTT	0.607000													17	48					0	0	1	0	0
VSTM2B	342865	broad.mit.edu	37	19	30018224	30018224	+	Silent	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:30018224T>A	uc010xrl.1	+	1	189	c.189T>A	c.(187-189)atT>atA	p.I63I	LOC284395_uc002nse.1_5'Flank	NM_001146339	NP_001139811	A6NLU5	VTM2B_HUMAN	Homo sapiens V-set and transmembrane domain containing 2B (VSTM2B), mRNA.	63	Ig-like V-type.					integral to membrane				breast(2)	2						CGCTGGAGATTCAGTGGTGGT	0.652000													16	18					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168249	49168249	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:49168249G>A	uc001rsh.4	-	12	2879	c.2219C>T	c.(2218-2220)gCa>gTa	p.A740V	ADCY6_uc001rsi.4_Missense_Mutation_p.A740V|ADCY6_uc001rsj.4_Missense_Mutation_p.A740V|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	740					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	p.R739L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTGCTATGTGCCCGTGAGCG	0.537000													72	77					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173317154	173317154	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr5:173317154T>G	uc003mcs.4	+	0	1824	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V	CPEB4_uc010jju.2_Missense_Mutation_p.L140V|CPEB4_uc010jjv.3_Missense_Mutation_p.L140V|CPEB4_uc011dfg.2_Missense_Mutation_p.L140V|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	140							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTCCAGTGTTGACAGGGTT	0.448000													7	99					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21630777	21630777	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:21630777G>T	uc001rex.3	-	7	1175	c.827C>A	c.(826-828)aCt>aAt	p.T276N	RECQL_uc001rey.3_Missense_Mutation_p.T276N	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	276					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGCTGTAAAAGTAAAACACTT	0.378000								Other identified genes with known or suspected DNA repair function					4	187					0.150653	0.150653	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360588	71360588	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:71360588T>G	uc002sht.2	+	1	1002	c.650T>G	c.(649-651)aTa>aGa	p.I217R	MPHOSPH10_uc010feb.1_Missense_Mutation_p.I217R	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	217					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTAGAAAACATAGAAAAAGAA	0.353000													136	203					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011289	2011289	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr16:2011289A>T	uc002cni.2	+	1	375	c.266A>T	c.(265-267)gAc>gTc	p.D89V	TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Missense_Mutation_p.D89V	NM_004548	NP_004539	O96000	NDUBA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA.	89					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	TGGAAGAGGGACTAGTACGTG	0.567000													29	51					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071636	63071636	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:63071636A>G	uc009yor.3	+	7	1550	c.1342A>G	c.(1342-1344)Act>Gct	p.T448A	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.L241L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	448						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTGCTGCTACTTTTTCCAG	0.483000													22	45					0	0	1	0	0
TMEM86B	255043	broad.mit.edu	37	19	55740079	55740079	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:55740079T>C	uc002qju.3	-	0	554	c.31A>G	c.(31-33)Aag>Gag	p.K11E	TMEM86B_uc002qjt.3_5'UTR	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	Homo sapiens transmembrane protein 86B (TMEM86B), mRNA.	11					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)		CAGTGAGTCTTCAGGGTCTGC	0.672000													30	54					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112655819	112655819	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr10:112655819A>G	uc001kzh.3	+	10	1609	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	PDCD4_uc001kzg.3_Silent_p.K430K|PDCD4_uc010qre.2_Silent_p.K427K|PDCD4_uc021pye.1_5'Flank	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	441	MI 2.				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAATTTCCAAACAACTCAGAG	0.358000													57	118					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640923	142640923	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:142640923C>T	uc003wcb.3	-	13	1749	c.1539G>A	c.(1537-1539)cgG>cgA	p.R513R		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	513					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCGGAGGGACCGGACACAGC	0.562000													4	159					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3712967	3712967	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr16:3712967G>A	uc002cvt.4	-	15	1798	c.1709_splice	c.e15-1	p.A570_splice	TRAP1_uc002cvs.3_Splice_Site_p.A361_splice|TRAP1_uc010uxf.2_Splice_Site_p.A517_splice|BC095475_uc002cvu.3_Non-coding_Transcript	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	570					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGCACTCGGCGGCTGCGGAAG	0.642000													9	11					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492048	107492048	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:107492048G>A	uc010hpr.3	+	10	1807	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	BBX_uc003dwk.4_Missense_Mutation_p.A494T|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.A515T|BBX_uc003dwm.4_Missense_Mutation_p.A494T|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	494	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGAAGCCGTCGCAAAAGGAGA	0.483000													5	343					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44416377	44416377	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr18:44416377G>A	uc002lck.3	-	8	1332	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I	PIAS2_uc010dnp.3_Missense_Mutation_p.T80I|PIAS2_uc010xda.2_Missense_Mutation_p.T80I|PIAS2_uc002lcl.3_Missense_Mutation_p.T382I|PIAS2_uc002lcm.3_Missense_Mutation_p.T382I|PIAS2_uc002lcn.1_Missense_Mutation_p.T386I	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	382					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACAAATCCAGGTGGGCTTTTT	0.408000													33	242					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70039804	70039804	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:70039804A>T	uc010yqo.2	+	7	759	c.245A>T	c.(244-246)aAt>aTt	p.N82I	ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.N166I|ANXA4_uc002sfs.4_Missense_Mutation_p.N144I	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	164					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GATGAAGGAAATTATCTGGAC	0.443000													24	43					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32878681	32878681	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr20:32878681C>T	uc002xai.3	-	5	761	c.622G>A	c.(622-624)Gat>Aat	p.D208N	AHCY_uc002xaj.3_Missense_Mutation_p.D180N	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	208					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCATCACATCTGTGGCCCGC	0.587000													34	57					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906723	103906723	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr10:103906723G>A	uc001kum.3	+	8	4013	c.3974G>A	c.(3973-3975)cGc>cAc	p.R1325H	PPRC1_uc001kun.3_Missense_Mutation_p.R1205H|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AATGTCAAGCGCCATCAGGAC	0.602000													20	47					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921489	130921489	+	Silent	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:130921489T>G	uc001uil.2	-	9	2169	c.1953A>C	c.(1951-1953)tcA>tcC	p.S651S	RIMBP2_uc001uim.3_Silent_p.S559S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	651	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCGGCTGGGTGAGGGCGACC	0.726000													6	60					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139848924	139848924	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr9:139848924A>C	uc004ckc.3	+	4	775	c.767A>C	c.(766-768)cAc>cCc	p.H256P	LCN12_uc004ckb.3_Intron			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	111					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		acctcctcccaccccgggtct	0.761000													3	7					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153755929	153755929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr5:153755929C>T	uc003lvh.3	+	4	793	c.661C>T	c.(661-663)Cga>Tga	p.R221*	GALNT10_uc003lvg.1_Nonsense_Mutation_p.R221*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GATAAGGACCCGAATGCTGGG	0.522000													51	82					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970233	74970233	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr14:74970233G>A	uc001xqa.3	-	31	5046	c.4659C>T	c.(4657-4659)tgC>tgT	p.C1553C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1553	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGGGGCTGCAGAAGCAGT	0.652000													3	28					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166000935	166000935	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr4:166000935G>T	uc003iqz.4	-	5	790	c.691C>A	c.(691-693)Cta>Ata	p.L231I		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	Homo sapiens transmembrane protein 192 (TMEM192), mRNA.	231						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		ATTTCTTCTAGGCTTGAAATA	0.388000													24	45					7.92952e-12	8.52695e-12	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113474213	113474213	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr13:113474213G>A	uc001vsj.4	+	8	763	c.675_splice	c.e8-1	p.K225_splice	ATP11A_uc001vsi.4_Splice_Site_p.K225_splice|ATP11A_uc001vsm.1_Splice_Site_p.K101_splice	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	225					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				TCTGTCGCCAGGTTCGTGGGT	0.637000													14	30					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139135653	139135653	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr6:139135653T>C	uc003qif.2	+	3	417	c.92T>C	c.(91-93)aTa>aCa	p.I31T	ECT2L_uc021zfx.1_Missense_Mutation_p.I31T|ECT2L_uc011edq.1_5'UTR	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	31					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCTCTTATAAGTCATTGG	0.368000			"""N, Splice, Mis"""		ETP ALL								36	54					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881586	207881586	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:207881586C>G	uc001hga.4	+	9	1513	c.1392C>G	c.(1390-1392)agC>agG	p.S464R	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	464	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATTGGAGCATGAAGCCAC	0.428000													20	170					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293274	145293274	+	Splice_Site	SNP	T	T	G	rs4525095	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:145293274T>G	uc021ouk.1	+	5	1163	c.-35_splice	c.e5+2		NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Intron|NBPF10_uc021oul.1_5'Flank|NBPF10_uc001emq.1_5'UTR	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAACAGTAAGTTAAGAATTTC	0.428000													4	38					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727612	36727612	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:36727612C>A	uc002odq.4	+	3	1793	c.270C>A	c.(268-270)caC>caA	p.H90Q	ZNF146_uc010eet.3_Missense_Mutation_p.H90Q|ZNF146_uc010eeu.3_Missense_Mutation_p.H90Q|ZNF146_uc021ute.1_Missense_Mutation_p.H90Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCCTTACGCACCAGAAAATTC	0.403000													77	97					6.72169e-28	7.5379e-28	1	1	0
NEK10	152110	broad.mit.edu	37	3	27233518	27233518	+	Splice_Site	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:27233518A>T	uc010hfk.3	-	5	670	c.441_splice	c.e5+1	p.H147_splice	NEK10_uc003cds.1_Splice_Site_p.H232_splice|NEK10_uc010hfj.3_Splice_Site_p.H147_splice			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	835							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTTGCACTTACGTGAGATAG	0.413000													36	72					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103277	168103277	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:168103277T>A	uc002udx.3	+	8	5464	c.5375T>A	c.(5374-5376)cTg>cAg	p.L1792Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.L1617Q|XIRP2_uc010fpq.3_Missense_Mutation_p.L1570Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1617					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						AAACTGTTACTGAAGAAAAGG	0.408000													69	174					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49485593	49485593	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:49485593A>G	uc002plp.3	-	6	1222	c.981T>C	c.(979-981)ttT>ttC	p.F327F	GYS1_uc010emm.3_Silent_p.F263F|GYS1_uc010xzz.2_Silent_p.F247F|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxf.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	327					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGCCGGCGATAAAGAAGTATA	0.542000													50	86					0	0	1	0	0
BC012753	0	broad.mit.edu	37	GL000214.1	32617	32617	+	RNA	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrGL000214.1:32617G>T	uc011mfm.2	+	1		c.826G>T								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		AAGAGCAACAGGAAACGAATA	0.408000													7	31					2.17888e-05	2.26546e-05	1	1	0
MUC2	4583	broad.mit.edu	37	11	1092948	1092948	+	Silent	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:1092948C>G	uc001lsx.1	+	30	4794	c.4767C>G	c.(4765-4767)acC>acG	p.T1589T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1594	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590T(2)|p.T1589T(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccaccactacggtga	0.627000													3	43					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043550	108043550	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:108043550C>T	uc001pjz.4	-	12	2263	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.D516N	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	721					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGTTTATCATCAGTATTTTGG	0.428000													19	40					0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11575733	11575733	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr6:11575733G>T	uc010jpa.3	+	2	338	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	Homo sapiens transmembrane protein 170B (TMEM170B), mRNA.	113						integral to membrane				large_intestine(3)|lung(5)	8						CTGGTATGGGGCGTTGGACAG	0.473000													32	82					1.22384e-17	1.34365e-17	1	1	0
SGK196	84197	broad.mit.edu	37	8	42977953	42977953	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:42977953A>G	uc003xpw.2	+	4	1245	c.986A>G	c.(985-987)gAg>gGg	p.E329G		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	329	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GACGTTCTGGAGACCTACCAG	0.478000													17	38					0	0	1	0	0
VWDE	221806	broad.mit.edu	37	7	12375822	12375822	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:12375822A>C	uc003ssj.2	-	26	5109	c.4599T>G	c.(4597-4599)atT>atG	p.I1533M	VWDE_uc011jxl.1_Non-coding_Transcript|VWDE_uc011jxm.1_Missense_Mutation_p.I987M	NM_001135924	NP_001129396	Q8N2E2	VWDE_HUMAN	Homo sapiens von Willebrand factor D and EGF domains (VWDE), mRNA.	1533	EGF-like 6.					extracellular region				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TGCTGGGCGCAATGCATTCAC	0.393000													106	137					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130912744	130912744	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr2:130912744G>A	uc002tqq.2	-	14	2644	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	SMPD4_uc002tqo.2_5'UTR|SMPD4_uc002tqp.2_Missense_Mutation_p.P238S|SMPD4_uc010yzy.2_Missense_Mutation_p.P248S|SMPD4_uc010yzz.2_Missense_Mutation_p.P163S|SMPD4_uc002tqs.2_Missense_Mutation_p.P367S|SMPD4_uc002tqr.2_Missense_Mutation_p.P470S|SMPD4_uc010zaa.2_Missense_Mutation_p.P357S|SMPD4_uc010zab.2_Missense_Mutation_p.P397S|SMPD4_uc002tqt.2_Missense_Mutation_p.P348S|SMPD4_uc010zac.2_Missense_Mutation_p.P240S|SMPD4_uc010zad.2_Missense_Mutation_p.P135S	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	460					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGTGCTTGGGGCTGACCAGG	0.597000													20	49					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40251678	40251678	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr13:40251678A>G	uc001uxh.2	+	4	602	c.502A>G	c.(502-504)Agt>Ggt	p.S168G	COG6_uc001uxi.2_Missense_Mutation_p.S116G|COG6_uc010acb.2_Missense_Mutation_p.S168G	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	168					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGATGAAATGAGTCTTCTCCG	0.348000													28	64					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34261469	34261469	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr18:34261469A>G	uc021uiv.1	+	14	2003	c.1906A>G	c.(1906-1908)Agg>Ggg	p.R636G	FHOD3_uc002kzr.1_Missense_Mutation_p.R461G|FHOD3_uc002kzs.1_Missense_Mutation_p.R461G|FHOD3_uc002kzt.1_Missense_Mutation_p.R461G|FHOD3_uc010dmz.1_Missense_Mutation_p.R176G	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	461					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGAGAGAGAGAGGCGGCGGCA	0.443000													5	235					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276851	71276851	+	Missense_Mutation	SNP	A	A	G	rs36179995		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:71276851A>G	uc001oqt.1	+	0	243	c.218A>G	c.(217-219)gAc>gGc	p.D73G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	73	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAGGGGGACTGTGGCTCT	0.672000													6	55					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54447788	54447788	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:54447788T>A	uc001seu.3	+	2	762	c.82T>A	c.(82-84)Tac>Aac	p.Y28N	HOXC4_uc001sex.3_Missense_Mutation_p.Y28N	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCAAAATAGCTACATCCCTGA	0.493000													34	137					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37898635	37898635	+	Silent	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr22:37898635C>G	uc003asx.1	-	10	1778	c.1761G>C	c.(1759-1761)cgG>cgC	p.R587R	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.R301R|CARD10_uc003asy.1_Silent_p.R587R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	587					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R587G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCACAGCCCCGAGCCAGGA	0.617000													17	32					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113303701	113303701	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr4:113303701A>T	uc003ian.4	+	3	496	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	ALPK1_uc003iam.3_Missense_Mutation_p.Q90L|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.Q90L|ALPK1_uc011cfx.2_Intron|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	90							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGGTTGCAGCAGTTACTGGTA	0.483000													73	111					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065116	63065116	+	Silent	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:63065116A>T	uc009yor.3	+	3	955	c.747A>T	c.(745-747)ggA>ggT	p.G249G	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	249						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAATCCTGGGAGGCTTGGCTT	0.463000													52	77					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160964158	160964158	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:160964158C>T	uc003feb.1	+	11	1171	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	NMD3_uc003fec.3_Missense_Mutation_p.S351F|NMD3_uc003fed.1_Missense_Mutation_p.S351F|NMD3_uc010hwh.3_Missense_Mutation_p.S171F	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	351					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAGAAGACATCTGAAATGAAT	0.353000													26	41					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959111	78959111	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:78959111T>C	uc001din.3	+	1	949	c.683T>C	c.(682-684)tTa>tCa	p.L228S	PTGFR_uc001dim.3_Missense_Mutation_p.L228S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	228					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTACACTTTTAAGAGTTAAA	0.388000													36	81					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874404	36874404	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr20:36874404T>C	uc002xhy.1	-	1	400	c.128A>G	c.(127-129)gAt>gGt	p.D43G	KIAA1755_uc002xhz.1_Missense_Mutation_p.D43G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	43										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)				GCTCAGCCCATCCCCCTGGAA	0.602000													3	66					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868821	7868821	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrX:7868821A>G	uc011mhq.1	-	6	830	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_uc011mhr.1_Missense_Mutation_p.L223P|PNPLA4_uc011mhs.1_Missense_Mutation_p.L136P	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	223					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353000													5	305					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583589	7583589	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr6:7583589G>A	uc003mxp.1	+	23	6373	c.6094G>A	c.(6094-6096)Gta>Ata	p.V2032I	DSP_uc003mxq.1_Missense_Mutation_p.V1433I|DSP_uc021yle.1_Missense_Mutation_p.V1589I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2032	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATACTCTTTGGTAGAGGCCAA	0.478000													29	76					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120320001	120320001	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:120320001A>G	uc003edu.3	+	1	303	c.224A>G	c.(223-225)aAt>aGt	p.N75S	NDUFB4_uc003edt.3_Missense_Mutation_p.N75S	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	75					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AGAACAATAAATGTCTATCCT	0.363000													57	87					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369834	1369834	+	Silent	SNP	G	G	A	rs114098503	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr4:1369834G>A	uc003gde.4	+	9	1893	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	UVSSA_uc010ibv.3_Silent_p.A33A	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	482																	CCTCCAGAGCGTTGCCAGAGC	0.697000													28	46					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881585	207881585	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:207881585G>T	uc001hga.4	+	9	1512	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	464	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCATTGGAGCATGAAGCCA	0.423000													20	173					6.26901e-30	7.08083e-30	1	1	0
NEAT1	283131	broad.mit.edu	37	11	65190322	65190322	+	RNA	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:65190322T>A	uc010rog.2	+	0		c.54T>A								Homo sapiens nuclear paraspeckle assembly transcript 1 (non-protein coding) (NEAT1), non-coding RNA.																		GGGGAGGAAGTGGCTAGCTCA	0.597000													11	16					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58503225	58503225	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr17:58503225G>A	uc002iyq.3	+	1	222	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	45								p.S45Y(1)		breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CAAGGGCCTGGATCAGGACAC	0.587000													52	49					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr20:23728528C>T	uc002wtp.3	-	2	422	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(2)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	106					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898190	12898190	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr17:12898190A>G	uc002gnz.4	-	20	2037	c.1920T>C	c.(1918-1920)tgT>tgC	p.C640C	ELAC2_uc002gnu.4_Silent_p.C37C|ELAC2_uc002gnv.4_Silent_p.C268C|ELAC2_uc002gnx.4_Silent_p.C400C|ELAC2_uc010vvo.2_Silent_p.C438C|ELAC2_uc010vvp.2_Silent_p.C621C|ELAC2_uc010vvq.2_Silent_p.C639C|ELAC2_uc010vvr.2_Silent_p.C600C	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	640					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGCACCAGACAGGTCTGAA	0.622000													57	58					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117058	117058	+	RNA	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chrGL000205.1:117058G>A	uc002kgk.4	+	0		c.436G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAACTATAGAGTTTGTGAACA	0.433000													6	28					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:95825254C>T	uc001pfw.1	-	1	3226	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	647					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q647Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								4	62					0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100478514	100478514	+	Silent	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr4:100478514C>T	uc003huy.3	-	3	721	c.408G>A	c.(406-408)ctG>ctA	p.L136L	RG9MTD2_uc003huz.4_Silent_p.L136L|RG9MTD2_uc003hva.4_Silent_p.L136L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	136							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GCACAGGATGCAGTGCCCGTC	0.343000													4	128					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407915	139407915	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr9:139407915G>T	uc004chz.3	-	13	2282	c.2282C>A	c.(2281-2283)cCt>cAt	p.P761H	NOTCH1_uc004cia.1_5'UTR	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	761	EGF-like 20.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGACACAAGGGTTGGATTC	0.587000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	40					1.33834e-09	1.41972e-09	1	1	0
SOX5	6660	broad.mit.edu	37	12	23757377	23757377	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:23757377A>G	uc001rfw.3	-	8	1210	c.1108T>C	c.(1108-1110)Tct>Cct	p.S370P	SOX5_uc001rfx.3_Missense_Mutation_p.S357P|SOX5_uc001rfy.3_Missense_Mutation_p.S357P|SOX5_uc010siv.2_Missense_Mutation_p.S357P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.S322P	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	370					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S370F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGTAGGAGATACAGCAGCA	0.502000													28	74					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227264	136227264	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr9:136227264G>T	uc004cdi.2	+	4	689	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	214							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GATGAGAGCAGGAGAGAGACG	0.557000													16	26					1.45105e-14	1.58205e-14	1	1	0
WIPF3	644150	broad.mit.edu	37	7	29924098	29924098	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:29924098T>C	uc022aaz.1	+	4	1170	c.988T>C	c.(988-990)Tcc>Ccc	p.S330P	WIPF3_uc003taj.2_Missense_Mutation_p.S330P	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	330										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						ACCCCCTAAATCCCCCAGCTT	0.667000													6	208					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr11:95825407C>T	uc001pfw.1	-	1	3073	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	596					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q596Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								9	49					0	0	1	0	0
VSTM2B	342865	broad.mit.edu	37	19	30018225	30018225	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:30018225C>A	uc010xrl.1	+	1	190	c.190C>A	c.(190-192)Cag>Aag	p.Q64K	LOC284395_uc002nse.1_5'Flank	NM_001146339	NP_001139811	A6NLU5	VTM2B_HUMAN	Homo sapiens V-set and transmembrane domain containing 2B (VSTM2B), mRNA.	64	Ig-like V-type.					integral to membrane				breast(2)	2						GCTGGAGATTCAGTGGTGGTA	0.657000													13	20					6.72482e-11	7.18229e-11	1	1	0
TBC1D28	254272	broad.mit.edu	37	17	18541949	18541949	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr17:18541949A>G	uc002gud.2	-	6	676	c.264T>C	c.(262-264)taT>taC	p.Y88Y		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	88						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TGGTGCTCCTATATTTTGTCC	0.542000													43	66					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425407	72425407	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:72425407G>A	uc009zrw.1	+	10	1546	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	TPH2_uc001swy.2_Missense_Mutation_p.D379N	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	469					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGTGGTGCAGGACCTTCGCAG	0.413000													5	205					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374712	47374712	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr3:47374712G>T	uc003crd.3	+	4	792	c.666G>T	c.(664-666)gaG>gaT	p.E222D	KLHL18_uc003crc.2_Missense_Mutation_p.E222D|KLHL18_uc011bav.2_Missense_Mutation_p.E110D|KLHL18_uc010hjq.2_Missense_Mutation_p.E73D	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	222	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACCTGCCTGAGCTGCTGTCCA	0.572000													15	44					7.21436e-19	8.03301e-19	1	1	0
CCDC168	643677	broad.mit.edu	37	13	103401232	103401232	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr13:103401232C>G	uc001vpm.3	-	3	1955	c.1815G>C	c.(1813-1815)aaG>aaC	p.K605N		NM_001146197	NP_001139669			Homo sapiens coiled-coil domain containing 168 (CCDC168), mRNA.																		ACTCCTTTTCCTTTTTAGTAA	0.353000													59	95					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144621526	144621526	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:144621526G>A	uc009wig.1	+	7	1046	c.852G>A	c.(850-852)atG>atA	p.M284I	NBPF10_uc010oxo.1_Missense_Mutation_p.M286I|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.M217I|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.M15I	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	286										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGCAGAGATGAACATTCTAG	0.502000													3	30					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112185015	112185015	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr9:112185015A>G	uc004bed.2	-	12	1231	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	PTPN3_uc004beb.2_Silent_p.P242P|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Silent_p.P86P|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	373					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAGTAATGGGAGGGGAACGAG	0.413000													6	60					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55059680	55059687	+	Frame_Shift_Del	DEL	GCCACCTT	GCCACCTT	-	rs35306628		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:55059680_55059687delGCCACCTT	uc001cxm.2	+	4	615_622	c.439_446delGCCACCTT	c.(439-447)gccaccttcfs	p.A147fs	ACOT11_uc001cxj.2_Frame_Shift_Del_p.A25fs|ACOT11_uc001cxk.3_Frame_Shift_Del_p.A113fs|ACOT11_uc001cxl.2_Frame_Shift_Del_p.A147fs	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	147	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAAGGCCTTGGCCACCTTCGTGGCCCGC	0.625													13	36	---	---	---	---					
RNPEP	6051	broad.mit.edu	37	1	201958580	201958590	+	Frame_Shift_Del	DEL	TTCCAGATGTG	TTCCAGATGTG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:201958580_201958590delTTCCAGATGTG	uc001gxd.3	+	2	687_697	c.658_668delTTCCAGATGTG	c.(658-669)ttccagatgtgtfs	p.F220fs	RNPEP_uc001gxe.3_Intron	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	220					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TAAGTTCTTCTTCCAGATGTGTCAGCCCATC	0.507													36	125	---	---	---	---					
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:248722428_248722429insCG	uc001ieo.2	-	0	364_365	c.364_365insCG	c.(364-366)atgfs	p.M122fs		NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 29 (OR2T29), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.540													6	8	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55277140	55277140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:55277140delG	uc002rye.3	-	0	595	c.297delC	c.(295-297)cccfs	p.P99fs	RTN4_uc002ryd.3_5'Flank|RTN4_uc002ryf.3_Frame_Shift_Del_p.P99fs|RTN4_uc002ryg.3_Frame_Shift_Del_p.P99fs|RTN4_uc010yov.1_Frame_Shift_Del_p.R22fs	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	99					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ccggggcgacggggggagcgg	0.771													2	4	---	---	---	---					
UGT1A1	54658	broad.mit.edu	37	2	234580827	234580828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:234580827_234580828insT	uc002vus.3	+	0	284_285	c.247_248insT	c.(247-249)ctgfs	p.L83fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Frame_Shift_Ins_p.L83fs	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	85			F -> L (in GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity; dbSNP:rs56059937).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCATATACCCTGGAGGATCTG	0.446													70	146	---	---	---	---					
FRYL	285527	broad.mit.edu	37	4	48604083	48604083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:48604083delA	uc003gyh.1	-	12	1594	c.989delT	c.(988-990)ttafs	p.L330fs	FRYL_uc003gyk.3_Frame_Shift_Del_p.L330fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L330fs*3(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTATTTAAAAAAAATTG	0.308													8	1117	---	---	---	---					
RIMS1	22999	broad.mit.edu	37	6	73017054	73017055	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:73017054_73017055delAT	uc003pga.3	+	26	4021_4022	c.3944_3945delAT	c.(3943-3945)gatfs	p.D1315fs	RIMS1_uc011dyb.2_Frame_Shift_Del_p.D712fs|RIMS1_uc003pgc.3_Frame_Shift_Del_p.D764fs|RIMS1_uc010kaq.3_Frame_Shift_Del_p.D635fs|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Frame_Shift_Del_p.D355fs|RIMS1_uc003pgf.3_Frame_Shift_Del_p.D324fs|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Frame_Shift_Del_p.D381fs|RIMS1_uc011dye.2_Frame_Shift_Del_p.D121fs|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1315					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAACTTGATCGCGAGCAAT	0.401													33	85	---	---	---	---					
RINT1	60561	broad.mit.edu	37	7	105189036	105189036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:105189036delA	uc003vda.1	+	6	1106	c.875delA	c.(874-876)gaafs	p.E292fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	292	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAACTCCCAGAAAAATACTCT	0.428													62	135	---	---	---	---					
AQP3	360	broad.mit.edu	37	9	33443353	33443354	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:33443353_33443354insA	uc003zsx.3	-	2	441_442	c.338_339insT	c.(337-339)ttcfs	p.F113fs	AQP3_uc010mju.3_Frame_Shift_Ins_p.F113fs|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	113					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGCACCCAAGAAGGCTCCCAG	0.589													49	98	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													24	31	---	---	---	---					
ZMYM2	7750	broad.mit.edu	37	13	20638677	20638677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:20638677delA	uc001umr.3	+	19	3422	c.3124delA	c.(3124-3126)aaafs	p.K1042fs	ZMYM2_uc001ums.3_Frame_Shift_Del_p.K1042fs|ZMYM2_uc021rgy.1_Frame_Shift_Del_p.K1042fs|ZMYM2_uc001umt.3_Frame_Shift_Del_p.K1042fs|ZMYM2_uc001umv.3_Frame_Shift_Del_p.K422fs|ZMYM2_uc001umw.3_Frame_Shift_Del_p.K495fs	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.K1044fs*33(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACCTCGATCTAAAAAAAAGGT	0.368													7	82	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18937310	18937312	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:18937310_18937312delGCC	uc002dfm.3	-	0	415_417	c.52_54delGGC	c.(52-54)ggcdel	p.G18del		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	18	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATACTTGGTgccgccgccgccg	0.749													9	115	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3980188	3980189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:3980188_3980189insT	uc002fxe.3	-	19	3148_3149	c.3084_3085insA	c.(3082-3087)tcagtgfs	p.S1028fs	ZZEF1_uc002fxk.1_Frame_Shift_Ins_p.S1029fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1028							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGAAAACACTGAGTTACATA	0.470													121	104	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:7788146_7788148delGAG	uc002gjd.2	+	0	24_26	c.22_24delGAG	c.(22-24)gagdel	p.E14del		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	429					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.700													2	4	---	---	---	---					
RNF126P1	376412	broad.mit.edu	37	17	55123867	55123868	+	RNA	INS	-	-	GACT	rs3217120	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:55123867_55123868insGACT	uc002iuw.3	+	0		c.1029_1030insGACT								Homo sapiens ring finger protein 126 pseudogene 1 (RNF126P1), non-coding RNA.																		GAAACCGCGGGGACTTTCCCAA	0.688													3	4	---	---	---	---					
ZC3H4	23211	broad.mit.edu	37	19	47569625	47569625	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:47569625delG	uc002pga.4	-	14	3938	c.3900delC	c.(3898-3900)cccfs	p.P1300fs	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1300							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACTGGCAAAAGGGGGAGGCCG	0.627													15	48	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr21:46911183delC	uc002zhi.3	+	20	2673	c.2652delC	c.(2650-2652)ggcfs	p.G884fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G704fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1119	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													8	304	---	---	---	---					
RNPEP	6051	broad.mit.edu	37	1	201958580	201958590	+	Frame_Shift_Del	DEL	TTCCAGATGTG	TTCCAGATGTG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr1:201958580_201958590delTTCCAGATGTG	uc001gxd.3	+	2	687_697	c.658_668delTTCCAGATGTG	c.(658-669)ttccagatgtgtfs	p.F220fs	RNPEP_uc001gxe.3_Intron	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	220					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TAAGTTCTTCTTCCAGATGTGTCAGCCCATC	0.507													36	125	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr6:42897358_42897360delTGC	uc003ota.4	+	0	499_501	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	17					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													9	68	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195	by1000genomes	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:1586653_1586654insGCC	uc003skv.4	-	8	1493_1494	c.1176_1177insGGC	c.(1174-1179)insGGC	p.392_393insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.371_372insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.197_198insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	392						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708													12	27	---	---	---	---					
HOXA2	3199	broad.mit.edu	37	7	27141769	27141771	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:27141769_27141771delGGC	uc003syh.3	-	0	624_626	c.349_351delGCC	c.(349-351)gccdel	p.A117del	HOXA2_uc022aaq.1_In_Frame_Del_p.A117del	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	117						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ctgcggcggtggcggcggcggcg	0.709													9	149	---	---	---	---					
RINT1	60561	broad.mit.edu	37	7	105189036	105189036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr7:105189036delA	uc003vda.1	+	6	1106	c.875delA	c.(874-876)gaafs	p.E292fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	292	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAACTCCCAGAAAAATACTCT	0.428													62	135	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:30945377_30945379delAAG	uc003xio.4	+	11	2305_2307	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del	WRN_uc011lbe.1_In_Frame_Del_p.E38del|WRN_uc010lvk.3_5'UTR	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	510	Poly-Glu.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	97	---	---	---	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													7	136	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.3	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zci.3_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	423						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													8	24	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													24	31	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18937310	18937312	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr16:18937310_18937312delGCC	uc002dfm.3	-	0	415_417	c.52_54delGGC	c.(52-54)ggcdel	p.G18del		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	18	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATACTTGGTgccgccgccgccg	0.749													9	115	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr17:7788146_7788148delGAG	uc002gjd.2	+	0	24_26	c.22_24delGAG	c.(22-24)gagdel	p.E14del		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	429					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.700													2	4	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr17:8415820_8415822delTTC	uc002glm.3	-	23	2995_2997	c.2899_2901delGAA	c.(2899-2901)gaadel	p.E967del	MYH10_uc002gll.3_In_Frame_Del_p.E936del|MYH10_uc010cnx.3_In_Frame_Del_p.E945del	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													7	337	---	---	---	---					
IFI30	10437	broad.mit.edu	37	19	18284687	18284689	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr19:18284687_18284689delGCT	uc002nic.1	+	0	109_111	c.36_38delGCT	c.(34-39)ccgctg>ccg	p.L17del	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	17					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						tcctgccaccgctgctgctgctg	0.621													7	37	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-11A-12D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1845e20-13c6-473e-a607-d5010b214486	7596f328-0747-45a5-a20b-95e4edfcb07d	g.chr21:46911183delC	uc002zhi.3	+	20	2673	c.2652delC	c.(2650-2652)ggcfs	p.G884fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G704fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1119	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													8	304	---	---	---	---					
