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
KRTAP3-3	85293	broad.mit.edu	37	17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	uc002hvr.1	-	0	103	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	23	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582000													9	156					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:45390482C>G	uc011dvx.2	+	2	421	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_uc011dvy.2_Missense_Mutation_p.Q71E|RUNX2_uc003oxt.3_Missense_Mutation_p.Q57E	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000													3	8					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66103989	66103989	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:66103989C>T	uc003tve.3	+	3	824	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Missense_Mutation_p.R214W	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGATTTGAGCGGAGTGAGAG	0.567000													4	126					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669907	49669907	+	Silent	SNP	C	C	T	rs117592972	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:49669907C>T	uc002efs.3	-	4	3454	c.3156G>A	c.(3154-3156)gcG>gcA	p.A1052A	ZNF423_uc010vgn.2_Silent_p.A935A	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1052					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGGGAGGACGCCGCTGAGC	0.602000													4	17					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	uc004arz.3	+	7	1361	c.821C>T	c.(820-822)gCt>gTt	p.A274V	CENPP_uc010mqx.3_Missense_Mutation_p.A162V|CENPP_uc004asj.3_Missense_Mutation_p.A101V	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	274					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473000													46	102					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37271705	37271705	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:37271705G>A	uc003apy.4	+	7	822	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NCF4_uc003apz.4_Missense_Mutation_p.R213Q	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	213	SH3.				cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGCACTGTCCGGGGAGCCACG	0.602000													5	89					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	uc001vlk.3	-	0	1598	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	238	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522000													11	68					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													3	17					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000													7	23					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854141	88854141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:88854141C>T	uc010kbz.3	-	1	983	c.853G>A	c.(853-855)Gta>Ata	p.V285I	CNR1_uc011dzr.2_Missense_Mutation_p.V285I|CNR1_uc011dzs.2_Missense_Mutation_p.V285I|CNR1_uc003pmq.4_Missense_Mutation_p.V285I|CNR1_uc011dzt.2_Missense_Mutation_p.V285I|CNR1_uc010kca.3_Missense_Mutation_p.V252I|CNR1_uc021zco.1_Missense_Mutation_p.V285I	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	285					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAGCAGTACGCTGGTGACC	0.507000													11	49					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679320	45679320	+	Splice_Site	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:45679320C>T	uc002zeg.1	-	5	828	c.344_splice	c.e5+1	p.R115_splice	DNMT3L_uc002zeh.1_Splice_Site_p.R115_splice	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	115	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCGCCTCACCGGGTGCAATC	0.587000													18	63					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	181					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	uc001glc.3	-	1	511	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_uc001glb.1_Missense_Mutation_p.T100R|ASTN1_uc001gld.1_Missense_Mutation_p.T100R|ASTN1_uc009wwx.1_Missense_Mutation_p.T100R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	100					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488000													3	148					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726332	121726332	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:121726332G>A	uc010flp.3	+	4	716	c.686G>A	c.(685-687)cGc>cAc	p.R229H	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Silent_p.P99P|GLI2_uc010flo.1_Missense_Mutation_p.R104H|GLI2_uc002tmw.1_Missense_Mutation_p.R229H	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	229					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCCTGAGCCGCAAGCGGGCG	0.637000													11	129					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000													3	32					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643347	31643347	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:31643347G>A	uc002wym.1	+	0	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	40	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GGATGAACTCGGCAAAGGTGA	0.577000													20	55					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151917594	151917594	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:151917594C>T	uc003qol.3	+	8	1681	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	531																	AGGGACAACGCGCATCTTACC	0.552000													35	64					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	uc002mku.3	+	6	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_uc002mkv.3_Missense_Mutation_p.K274R|ZNF317_uc002mkw.3_Missense_Mutation_p.K383R|ZNF317_uc002mkx.3_Missense_Mutation_p.K330R|ZNF317_uc002mky.3_Missense_Mutation_p.K298R	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502000													24	42					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528619	17528619	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:17528619G>A	uc003gpg.1	+	2	715	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	205						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAACTTGGTCGTGGTGGCGAT	0.507000													3	74					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	uc010hsi.2	-	18	1979	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	UROC1_uc003eiz.2_Missense_Mutation_p.R582H	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	582					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612000													6	175					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22008832	22008832	+	Splice_Site	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	uc002kvh.4	+	3	278	c.166_splice	c.e3-1	p.V56_splice	IMPACT_uc002kvg.4_Splice_Site_p.V38_splice	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	56	RWD.									endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373000													6	50					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	uc010bfw.3	+	17	3722	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W	CGNL1_uc002aeg.3_Missense_Mutation_p.R1177W	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1177						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602000													3	32					0	0	1	0	0
IMPA1	3612	broad.mit.edu	37	8	82591382	82591382	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:82591382C>T	uc003ych.2	-	3	408	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IMPA1_uc011lfq.1_Missense_Mutation_p.G153E|IMPA1_uc011lfr.1_Missense_Mutation_p.G94E	NM_005536	NP_005527	P29218	IMPA1_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), transcript variant 1, mRNA.	94	Substrate binding.				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GTTAGTTGTTCCATCAATAGG	0.353000													22	55					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	uc022aqr.1	-	67	10729	c.10339G>T	c.(10339-10341)Gga>Tga	p.G3447*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.G2762*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.G1339*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3448						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTAAATCCTCCTCTTTCA	0.318000													14	32					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157454170	157454170	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:157454170G>A	uc003qqp.3	+	6	2341	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ARID1B_uc003qqo.3_Missense_Mutation_p.A794T|ARID1B_uc003qqn.3_Missense_Mutation_p.A781T|ARID1B_uc003qqq.1_Missense_Mutation_p.A165T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	781					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGTTTTATGGCAGGCACACA	0.468000													15	46					0	0	1	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849597	102849597	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	uc001ksv.3	-	2	1363	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	Homo sapiens TLX1 neighbor (TLX1NB), mRNA.	22																	CTTGGGAAAGGAGAGAGTGCT	0.662000													8	11					0	0	1	0	0
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:864455C>G	uc001lsd.1	+	4	483	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672000													4	144					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363008	22363008	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22363008C>G	uc002nqs.1	-	2	1829	c.1511G>C	c.(1510-1512)cGc>cCc	p.R504P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGCGTTTCTCTCC	0.388000													3	96					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:116520170C>T	uc002tle.3	+	11	1130	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	DPP10_uc002tla.2_Missense_Mutation_p.T366M|DPP10_uc002tlb.2_Missense_Mutation_p.T316M|DPP10_uc002tlc.2_Missense_Mutation_p.T362M|DPP10_uc002tlf.2_Missense_Mutation_p.T359M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	366					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353000													32	115					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102710883	102710883	+	Silent	SNP	A	A	G	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	uc001phj.1	-	5	956	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	297	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGCTGACAGCATCAAAGGACA	0.493000													4	134					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	uc001jkb.3	-	3	843	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	174						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388000													39	85					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	uc003eto.2	+	2	1524	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	440	COS.					intracellular	zinc ion binding	p.V440L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517000													6	57					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145834701	145834701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:145834701C>T	uc003lob.3	+	1	182	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TCERG1_uc003loc.3_Nonsense_Mutation_p.R48*|TCERG1_uc011dbt.2_Nonsense_Mutation_p.R48*	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	48	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.R48*(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCTGATGCGACCTCCTCC	0.607000													4	225					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	uc003pgw.3	+	3	905	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	187						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358000													52	80					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183273149	183273149	+	Splice_Site	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	uc003flr.3	-	1	351	c.293_splice	c.e1+1	p.R98_splice	KLHL6_uc003fls.1_Splice_Site|KLHL6_uc003flt.1_Splice_Site_p.R96_splice	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	98	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493000													7	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	uc021vsy.1	-	294	88667	c.88442G>A	c.(88441-88443)aGc>aAc	p.S29481N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S23176N|TTN_uc021vta.1_Missense_Mutation_p.S23109N|TTN_uc021vtb.1_Missense_Mutation_p.S22984N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30408	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTGCTTGCTCCACGTTAT	0.493000													27	132					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	uc002qtg.1	+	7	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_uc010eut.1_Silent_p.L294L|TRIM28_uc002qth.1_5'UTR	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542000													3	88					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986141	46986141	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:46986141G>A	uc021vgx.1	+	0	472	c.472G>A	c.(472-474)Gta>Ata	p.V158I	SOCS5_uc002rvf.3_Missense_Mutation_p.V158I|SOCS5_uc002rvg.3_Missense_Mutation_p.V158I	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	158					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCTACGGCGTAAGTTCTGT	0.458000													3	95					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000													5	30					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155036	22155036	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22155036T>C	uc021urr.1	-	3	2949	c.2800A>G	c.(2800-2802)Aaa>Gaa	p.K934E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTATGTTTACTAAAGACT	0.378000													6	38					0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114655934	114655934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:114655934C>A	uc003vhf.3	+	4	1276	c.686C>A	c.(685-687)tCa>tAa	p.S229*		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	229	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTTGTGAATCATCAGACTGC	0.408000													4	170					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109305	21109305	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:21109305G>A	uc001vxv.1	-	0	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGCCACTGTCGCAGAAGAAGT	0.587000													15	27					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	uc001wil.3	-	12	2287	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_uc010akf.3_Missense_Mutation_p.E638G	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	676					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667000													4	167					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	uc011cen.1	-	7	1588	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_uc003hvu.2_Missense_Mutation_p.I305F|PPP3CA_uc010ilj.2_Missense_Mutation_p.I305F|PPP3CA_uc003hvt.2_Missense_Mutation_p.I292F|PPP3CA_uc003hvs.2_Missense_Mutation_p.I238F|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	305					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313000													23	35					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378673	101378673	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:101378673C>A	uc003dve.4	-	5	2230	c.2000G>T	c.(1999-2001)cGa>cTa	p.R667L		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATATGTATTCGGAGAGAATA	0.358000													3	102					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122423	17122423	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:17122423C>A	uc002nfb.3	-	3	585	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	138						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCTGTACACAGGCTTGTCC	0.637000													5	173					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272196	158272196	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:158272196C>T	uc002tzj.1	-	7	1145	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	CYTIP_uc010zcl.1_Missense_Mutation_p.R252H	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	358					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCGTCAAAAGCGACTTTCTTC	0.468000													10	47					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78857260	78857260	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:78857260C>T	uc002jyt.1	+	14	2431	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	542					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCGTGATCGTCAACAGCT	0.587000													22	52					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150891839	150891839	+	Missense_Mutation	SNP	G	G	A	rs140427755		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150891839G>A	uc003lue.4	-	19	11805	c.11792C>T	c.(11791-11793)aCg>aTg	p.T3931M	FAT2_uc003lud.4_Missense_Mutation_p.T538M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3931	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGCCACCGTCTTGCCAGG	0.577000													7	101					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:87969690C>T	uc003plm.4	+	7	6384	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2115*(1)|p.R1970*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418000													27	62					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12978320	12978320	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	uc002mvm.3	+	18	2300	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	724					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652000													5	126					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	uc003lsn.3	+	2	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_uc021yfu.1_Missense_Mutation_p.R800H|SYNPO_uc003lso.4_Missense_Mutation_p.R556H|SYNPO_uc003lsp.3_Missense_Mutation_p.R556H|SYNPO_uc021yfv.1_Missense_Mutation_p.R556H	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	800	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667000													32	160					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10540386	10540386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:10540386C>G	uc002kon.3	+	7	723	c.496C>G	c.(496-498)Cga>Gga	p.R166G	NAPG_uc010wzr.2_Missense_Mutation_p.R84G|NAPG_uc002kop.3_Missense_Mutation_p.R79G	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	166					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACTACTAGTACGAGGACGTAG	0.373000													17	43					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47110059	47110059	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:47110059C>T	uc002ldv.3	+	7	1543	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	LIPG_uc010xdh.2_Missense_Mutation_p.R357C	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.R431C(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAGGAGTTTCGCAGCTACCT	0.592000													9	45					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:142718314C>G	uc022cfm.1	-	0	611	c.611G>C	c.(610-612)cGt>cCt	p.R204P	SLITRK4_uc022cfl.1_Missense_Mutation_p.R204P|SLITRK4_uc004fbx.3_Missense_Mutation_p.R204P|SLITRK4_uc004fby.3_Missense_Mutation_p.R204P	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	204						integral to membrane		p.R204H(2)|p.R204C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428000													34	24					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9099650	9099650	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:9099650G>A	uc001apo.3	-	7	1249	c.957C>T	c.(955-957)gcC>gcT	p.A319A	SLC2A5_uc010nzy.2_Silent_p.A260A|SLC2A5_uc010nzz.2_Silent_p.A204A|SLC2A5_uc010oaa.2_Silent_p.A275A	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	319					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGTGCCGGCCGTCACGT	0.697000													3	4					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281325	54281325	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	uc003jpk.3	-	0	90	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_uc010ivt.3_Silent_p.L7L	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	7					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597000													3	65					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92548749	92548749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:92548749C>A	uc021rzo.1	-	7	739	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ATXN3_uc021ryv.1_Non-coding_Transcript|ATXN3_uc010twl.2_Nonsense_Mutation_p.E45*|ATXN3_uc021ryw.1_Non-coding_Transcript|ATXN3_uc021ryx.1_Nonsense_Mutation_p.E154*|ATXN3_uc021ryy.1_Nonsense_Mutation_p.E103*|ATXN3_uc021ryz.1_Nonsense_Mutation_p.E4*|ATXN3_uc021rza.1_Intron|ATXN3_uc021rzb.1_Intron|ATXN3_uc021rzc.1_Non-coding_Transcript|ATXN3_uc021rzd.1_Intron|ATXN3_uc021rze.1_Nonsense_Mutation_p.E45*|ATXN3_uc021rzf.1_Intron|ATXN3_uc021rzg.1_Intron|ATXN3_uc021rzh.1_Non-coding_Transcript|ATXN3_uc021rzi.1_Intron|ATXN3_uc021rzj.1_Intron|ATXN3_uc021rzk.1_Non-coding_Transcript|ATXN3_uc021rzl.1_Non-coding_Transcript|ATXN3_uc001yac.4_Nonsense_Mutation_p.E224*|ATXN3_uc021rzm.1_Non-coding_Transcript|ATXN3_uc001yae.4_Nonsense_Mutation_p.E126*|ATXN3_uc021rzn.1_Intron|ATXN3_uc021ryo.1_Non-coding_Transcript|ATXN3_uc021ryp.1_Non-coding_Transcript|ATXN3_uc021ryq.1_Non-coding_Transcript|ATXN3_uc001yad.4_Nonsense_Mutation_p.E169*|ATXN3_uc021ryr.1_Non-coding_Transcript|ATXN3_uc021rys.1_Nonsense_Mutation_p.E126*|ATXN3_uc021ryt.1_Non-coding_Transcript|ATXN3_uc021ryu.1_Nonsense_Mutation_p.E173*|ATXN3_uc010aug.3_Nonsense_Mutation_p.E209*|ATXN3_uc021rzp.1_Nonsense_Mutation_p.E126*|ATXN3_uc021rzz.1_Intron|ATXN3_uc021saa.1_Non-coding_Transcript|ATXN3_uc021sab.1_Nonsense_Mutation_p.E224*|ATXN3_uc021sac.1_Non-coding_Transcript|ATXN3_uc021sad.1_Non-coding_Transcript|ATXN3_uc021sae.1_Nonsense_Mutation_p.E223*|ATXN3_uc021saf.1_Nonsense_Mutation_p.E126*|ATXN3_uc021sag.1_Nonsense_Mutation_p.E118*|ATXN3_uc021sah.1_Nonsense_Mutation_p.E169*|ATXN3_uc021sai.1_Nonsense_Mutation_p.E126*|ATXN3_uc021saj.1_Non-coding_Transcript|ATXN3_uc021sak.1_Nonsense_Mutation_p.E173*|ATXN3_uc021sal.1_Nonsense_Mutation_p.E126*|ATXN3_uc021sam.1_Non-coding_Transcript|ATXN3_uc021san.1_Nonsense_Mutation_p.E172*|ATXN3_uc021sao.1_Nonsense_Mutation_p.E158*|ATXN3_uc021sap.1_Intron|ATXN3_uc021saq.1_Non-coding_Transcript|ATXN3_uc021sar.1_Nonsense_Mutation_p.E66*|ATXN3_uc021sas.1_Non-coding_Transcript|ATXN3_uc021sat.1_Intron|ATXN3_uc021sau.1_Intron|ATXN3_uc021rzq.1_Non-coding_Transcript|ATXN3_uc021rzr.1_Non-coding_Transcript|ATXN3_uc021rzs.1_Non-coding_Transcript|ATXN3_uc021rzt.1_Non-coding_Transcript|ATXN3_uc021rzu.1_Non-coding_Transcript|ATXN3_uc021rzv.1_Nonsense_Mutation_p.E179*|ATXN3_uc021rzw.1_Non-coding_Transcript|ATXN3_uc021rzx.1_Non-coding_Transcript|ATXN3_uc021rzy.1_Intron|ATXN3_uc021sav.1_Non-coding_Transcript	NM_004993	NP_004984	P54252	ATX3_HUMAN	Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.	224					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCATCTTCGTCTAACATT	0.443000													34	79					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	C	G	rs78291036	by1000genomes	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000													3	35					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	uc002txm.3	+	21	2649	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_uc010fnv.2_Missense_Mutation_p.I794V|RIF1_uc002txn.3_Missense_Mutation_p.I830V|RIF1_uc002txl.3_Missense_Mutation_p.I830V|RIF1_uc002txo.3_Missense_Mutation_p.I830V	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	830					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383000													3	137					0	0	1	0	0
ORMDL1	94101	broad.mit.edu	37	2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	uc002urd.4	-	3	443	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_uc002urb.4_Missense_Mutation_p.P75T|ORMDL1_uc002ure.4_Missense_Mutation_p.P75T	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	Homo sapiens ORM1-like 1 (S. cerevisiae) (ORMDL1), transcript variant 1, mRNA.	75					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378000													21	51					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	uc001qan.3	-	1	372	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_uc021qru.1_Missense_Mutation_p.T32P|SIAE_uc001qao.2_Missense_Mutation_p.T67P	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	67						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522000											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	64					0	0	1	0	0
XPA	7507	broad.mit.edu	37	9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	uc004axr.4	-	4	760	c.643A>T	c.(643-645)Aaa>Taa	p.K215*	XPA_uc004axs.4_Non-coding_Transcript	NM_000380	NP_000371	P23025	XPA_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA.	215					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	41					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639279	32639279	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:32639279C>T	uc002yow.1	-	4	482	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TIAM1_uc011adk.1_Missense_Mutation_p.A4T|TIAM1_uc011adl.1_Missense_Mutation_p.A4T|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	4					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGACTTTCTGCGTTTCCCATG	0.527000													19	49					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	uc002gmn.3	-	34	5248	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1713					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488000													41	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:176857225G>A	uc001glc.3	-	17	3268	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	ASTN1_uc001glb.1_Missense_Mutation_p.A1019V|ASTN1_uc001gld.1_Missense_Mutation_p.A1019V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1027					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502000													6	87					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	C	A	rs112098339		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000													5	28					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414170	19414170	+	RNA	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:19414170T>C	uc010tcj.1	-	0		c.31940A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGAACAGTTGGTTCAAGT	0.269000													10	27					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678204	130678204	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	uc011muw.2	+	0	157	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413000													70	49					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524045	24524045	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:24524045C>T	uc002wtw.1	+	1	945	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	104					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632000													4	140					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	uc010hqb.2	+	11	1484	c.1314T>A	c.(1312-1314)ttT>ttA	p.F438L	TMPRSS7_uc011bhr.1_Missense_Mutation_p.F293L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	564	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368000													8	92					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000													4	21					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366712	40366712	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:40366712C>A	uc002rrx.3	-	8	2398	c.2374G>T	c.(2374-2376)Gtc>Ttc	p.V792F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.V787F|SLC8A1_uc002rsb.2_Missense_Mutation_p.V784F|SLC8A1_uc002rrz.3_Missense_Mutation_p.V779F|SLC8A1_uc002rsa.3_Missense_Mutation_p.V756F|SLC8A1_uc002rsd.4_Missense_Mutation_p.V756F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	792					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAGGGGGGACGAAGGCAAAC	0.502000													23	72					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	uc003eho.3	-	8	1499	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S	ITGB5_uc010hrx.3_Intron	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	401					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473000													22	129					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971188	31971188	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:31971188G>C	uc011adc.2	-	0	6	c.6C>G	c.(4-6)tgC>tgG	p.C2W	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	2						intermediate filament		p.C2C(4)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512000													11	82					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	uc003bst.3	-	4	550	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	122	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597000													16	35					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	G	A	rs141949470	by1000genomes	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:146494538G>A	uc001epd.2	-	3	535	c.461C>T	c.(460-462)gCg>gTg	p.A154V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGGCAGGGCCGCTCTCCAGAA	0.572000													3	44					0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	uc002nic.1	+	1	243	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	57					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						CTGAAGAAGTCCAATGCACCG	0.582000													13	31					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	-	-	rs67156933	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	uc021ozo.1	+	0	163_186	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_uc001fax.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001faz.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001fay.2_Splice_Site_p.K60_splice	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													8	44	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310453	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	uc002rpp.1	-	1	201_202	c.105_106insA	c.(103-108)aaagtcfs	p.K35fs	CCDC75_uc010ezz.3_5'Flank|CCDC75_uc002rpr.4_5'Flank	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	35							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371													31	58	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41860984	41860985	+	Frame_Shift_Ins	INS	-	T	T	rs76318575		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:41860984_41860985insT	uc003ckv.4	-	18	1979_1980	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs	ULK4_uc003ckw.2_Frame_Shift_Ins_p.K593fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	593							ATP binding|protein serine/threonine kinase activity	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.450													7	88	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:76358966_76358967insA	uc003ket.3	+	13	2416_2417	c.2034_2035insA	c.(2032-2037)aacaaafs	p.N678fs		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	678					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													7	226	---	---	---	---					
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:21468304_21468306delAGG	uc003sva.3	+	1	198_200	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	11	Poly-Glu.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517													2	4	---	---	---	---					
C9orf16	79095	broad.mit.edu	37	9	130925872	130925872	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:130925872delC	uc004btp.1	+	1	378	c.230delC	c.(229-231)gccfs	p.A77fs		NM_024112	NP_077017	Q9BUW7	CI016_HUMAN	Homo sapiens chromosome 9 open reading frame 16 (C9orf16), mRNA.	77										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CTCGGGGAGGCCCCCAGTGAT	0.677													2	4	---	---	---	---					
LTBP3	4054	broad.mit.edu	37	11	65325326	65325328	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:65325326_65325328delCAG	uc001oej.3	-	0	372_374	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_uc010roi.2_5'UTR|LTBP3_uc001oei.3_In_Frame_Del_p.L35del|LTBP3_uc010roj.2_In_Frame_Del_p.L21del|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	35	Gly-rich.			Missing (in Ref. 2; BAB15767).		extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						cgcccaggcccagcagcagcagc	0.818													4	7	---	---	---	---					
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:93486914delA	uc001peh.3	+	3	415	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_uc001pef.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc009ywi.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc001peg.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc001pei.3_Frame_Shift_Del_p.Q55fs|C11orf54_uc001pej.3_Frame_Shift_Del_p.Q55fs|C11orf54_uc001pek.3_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	74						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353													7	49	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75265762	75265768	+	Frame_Shift_Del	DEL	GTCTCAT	-	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:75265762_75265768delGTCTCAT	uc001xqj.4	+	4	3886_3892	c.3762_3768delGTCTCAT	c.(3760-3768)cggtctcatfs	p.R1254fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCATCTCGGTCTCATGATGGAGATA	0.488													7	58	---	---	---	---					
XYLT1	64131	broad.mit.edu	37	16	17221576	17221577	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	uc002dfa.3	-	9	2254_2255	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.K723fs		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	723					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.490													22	186	---	---	---	---					
