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
NIN	51199	broad.mit.edu	37	14	51223359	51223359	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:51223359C>G	uc001wyi.3	-	17	4580	c.4389G>C	c.(4387-4389)gaG>gaC	p.E1463D	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.E1463D|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.E1463D	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1463					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tcctagtcagctcctgtaact	0.418000			T	PDGFRB	MPD								21	47					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165851	118165851	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:118165851C>G	uc021osq.1	+	0	361	c.361C>G	c.(361-363)Cca>Gca	p.P121A	FAM46C_uc001ehe.3_Missense_Mutation_p.P121A	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	121										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAACTTCCTGCCAGAGGGTGT	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			59	72					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4839279	4839279	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4839279C>G	uc002mbj.2	-	7	1407	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H	PLIN3_uc002mbk.2_Missense_Mutation_p.Q398H|PLIN3_uc002mbl.3_Missense_Mutation_p.Q409H	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	410					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGGTGTGTTCTGGGCCACAT	0.632000													5	55					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33679190	33679190	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr22:33679190G>A	uc003and.4	-	13	2454	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	LARGE_uc011amd.2_Silent_p.F424F|LARGE_uc003ane.4_Silent_p.F625F|LARGE_uc010gwp.3_Silent_p.F573F|LARGE_uc011ame.2_Silent_p.F557F|LARGE_uc011amf.2_Intron	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	625					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTCACCTGAATGTGAAGA	0.552000													51	97					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790541	137790541	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:137790541G>A	uc003erq.3	-	11	1922	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	DZIP1L_uc003err.1_Missense_Mutation_p.A520V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	520						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTCTCCTTCGCTCTGCTGGT	0.582000													50	36					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896525	89896525	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr11:89896525G>A	uc001pdf.4	+	9	1232	c.1123G>A	c.(1123-1125)Gct>Act	p.A375T	NAALAD2_uc009yvx.3_Missense_Mutation_p.A342T|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pde.3_Missense_Mutation_p.A282T	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	375	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTATTTGGAGCTATTGACCC	0.403000													12	28					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74320721	74320721	+	Silent	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:74320721G>T	uc002skb.4	+	6	2790	c.2790G>T	c.(2788-2790)ggG>ggT	p.G930G		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	930							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A929T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTTCGCGGGGGTCACGGCCT	0.597000													32	82					4.01765e-15	4.29796e-15	1	1	0
ZNF727	442319	broad.mit.edu	37	7	63537955	63537955	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr7:63537955A>T	uc011kdm.2	+	3	707	c.528A>T	c.(526-528)gaA>gaT	p.E176D		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ACAAATGTGAAGAATGTGGCA	0.353000													55	41					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1714402	1714402	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:1714402G>A	uc004cqa.3	+	2	1084	c.888G>A	c.(886-888)gaG>gaA	p.E296E	AKAP17A_uc010ncx.1_Silent_p.E296E|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'UTR	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	296					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGGAAGCGGAGGAGAGGCAGC	0.602000													58	12					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84872967	84872967	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:84872967T>G	uc010kbp.3	-	18	2505	c.2408A>C	c.(2407-2409)gAa>gCa	p.E803A	KIAA1009_uc003pkj.4_Missense_Mutation_p.E727A|KIAA1009_uc003pki.4_Missense_Mutation_p.E189A	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	803					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTGATGTCTTCCAATAAACT	0.318000													8	17					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19435060	19435060	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:19435060C>T	uc003zny.1	+	3	639	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Silent_p.L112L	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	161					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TTGCACTGCACTGCTCATCGC	0.557000													41	132					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169043	32169043	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:32169043C>T	uc003obb.3	-	21	4129	c.3990G>A	c.(3988-3990)agG>agA	p.R1330R	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1330					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACGATCCTTCCTTACCCAGA	0.622000													41	70					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371302	31371302	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:31371302G>A	uc002ebt.3	+	6	690	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ITGAX_uc002ebu.1_Missense_Mutation_p.R208H|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	208	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAATTCAGGCGCAGCTCAAAC	0.517000													31	25					0	0	1	0	0
C2orf69	205327	broad.mit.edu	37	2	200790075	200790075	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:200790075T>A	uc010zhb.2	+	1	807	c.624T>A	c.(622-624)aaT>aaA	p.N208K		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA.	208						extracellular region				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						AAAGTTTGAATGTTTGGAATA	0.348000													11	33					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69247894	69247894	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:69247894T>C	uc003dnv.2	-	11	1198	c.908A>G	c.(907-909)tAt>tGt	p.Y303C	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Missense_Mutation_p.Y249C|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Missense_Mutation_p.Y147C	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	303	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCACGGAAATATAAGTTCTC	0.333000													43	27					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71772895	71772895	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:71772895T>A	uc010cgg.3	-	20	2532	c.2218A>T	c.(2218-2220)Agc>Tgc	p.S740C	AP1G1_uc021tkz.1_Missense_Mutation_p.S528C|AP1G1_uc002fbb.3_Missense_Mutation_p.S763C|AP1G1_uc002faz.3_Missense_Mutation_p.S157C|AP1G1_uc021tky.1_Missense_Mutation_p.S743C	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	740	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTCTGTGCTGTTGGAGGCC	0.418000													66	181					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667344	56667344	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:56667344C>G	uc003did.4	-	16	3393	c.3292G>C	c.(3292-3294)Gta>Cta	p.V1098L	FAM208A_uc003dib.4_Missense_Mutation_p.V217L|FAM208A_uc003dic.4_Missense_Mutation_p.V722L|FAM208A_uc003die.4_Missense_Mutation_p.V1159L	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1159										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTCATTTCTACTTCAGTTAAA	0.423000													118	103					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852818	40852818	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:40852818T>C	uc003jmg.3	+	2	1459	c.1384T>C	c.(1384-1386)Tac>Cac	p.Y462H		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	462					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCGTCTAGGATACTGTAGCTT	0.433000													48	59					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805597	55805597	+	Silent	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:55805597G>T	uc002qkf.3	+	7	766	c.639G>T	c.(637-639)gcG>gcT	p.A213A	BRSK1_uc021vbs.1_Silent_p.A197A|BRSK1_uc002qkg.3_Silent_p.A197A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	197	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.A197A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCATTATGCGTGTCCAGAGG	0.617000													3	102					0.00909568	0.00916207	1	1	0
GMCL1P1	64396	broad.mit.edu	37	5	177613089	177613089	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:177613089A>G	uc003mit.1	-	0	1345	c.1212T>C	c.(1210-1212)gaT>gaC	p.D404D						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		AGTATTCACCATCTTTGGCAA	0.433000													18	32					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101450739	101450739	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:101450739T>C	uc003dvk.1	+	4	530	c.503T>C	c.(502-504)cTa>cCa	p.L168P	CEP97_uc010hpm.1_Missense_Mutation_p.L134P|CEP97_uc011bhf.1_Missense_Mutation_p.L168P|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L6P	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	168						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCTGCTTACCTACCCAGAAGT	0.358000													12	40					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031774	58031774	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:58031774G>A	uc002emx.1	-	1	1019	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ZNF319_uc021tjd.1_Silent_p.F132F	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CCCCACAGACGAAGGGCTTCT	0.572000													42	44					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92973323	92973323	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:92973323T>C	uc002bra.3	+	1	298	c.143T>C	c.(142-144)tTa>tCa	p.L48S	ST8SIA2_uc002brb.3_Intron	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	48					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGAACAGCTTACATAGCAAA	0.393000													25	38					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705657	31705657	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:31705657G>A	uc021wuu.1	-	10	2835	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	OSBPL10_uc003ceu.1_Missense_Mutation_p.R479W|OSBPL10_uc011axf.2_Missense_Mutation_p.R658W	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	722					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCCAGGTGCCGCTTCTGCTCG	0.607000													43	98					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797664	125797664	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:125797664G>T	uc011lzk.2	+	0	819	c.819G>T	c.(817-819)ttG>ttT	p.L273F	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	273						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TCTACTTCTTGTTGGAAAGCT	0.458000													37	70					1.6237e-14	1.72362e-14	1	1	0
MAP4K4	9448	broad.mit.edu	37	2	102493592	102493592	+	Silent	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:102493592C>G	uc002tbc.3	+	25	3555	c.3177C>G	c.(3175-3177)gtC>gtG	p.V1059V	MAP4K4_uc002tbf.3_Silent_p.V1012V|MAP4K4_uc002tbd.3_Silent_p.V951V|MAP4K4_uc010yvy.2_Silent_p.V974V|MAP4K4_uc002tbh.3_Silent_p.V896V|MAP4K4_uc002tbg.3_Silent_p.V978V|MAP4K4_uc002tbi.3_Silent_p.V781V|MAP4K4_uc010yvz.2_Silent_p.V1018V|MAP4K4_uc002tbk.3_Silent_p.V433V|MAP4K4_uc021vlq.1_Silent_p.V164V|MAP4K4_uc002tbl.3_Silent_p.V164V	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	978	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTTGAATGTCTTGGTGACAA	0.418000													99	235					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713426	30713426	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:30713426G>A	uc003ceo.3	+	3	1133	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	TGFBR2_uc021wut.1_Missense_Mutation_p.G129R|TGFBR2_uc003cen.3_Missense_Mutation_p.G276R	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	251	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCCTGGTGGGGAAAGGTCG	0.517000													85	249					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30733555	30733555	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:30733555G>C	uc002dze.1	+	21	4039	c.3654G>C	c.(3652-3654)ttG>ttC	p.L1218F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.L1075F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1218	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCTGACTTTGACTGGTGCCC	0.587000													61	152					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654011	110654011	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:110654011C>T	uc004epd.3	-	0	364	c.192G>A	c.(190-192)ccG>ccA	p.P64P	DCX_uc011msv.2_Silent_p.P64P|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	64					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATTGGAACTTCGGGCTAAATA	0.433000													56	16					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106890644	106890644	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:106890644C>T	uc001tlp.3	+	24	3154	c.2932C>T	c.(2932-2934)Cgc>Tgc	p.R978C	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.R920C	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	978				R -> C (in Ref. 2; BAA91527).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R978L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGACCTCGTTCGCCATGGTTA	0.488000													3	85					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87943085	87943085	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:87943085T>A	uc003plm.4	+	4	622	c.581T>A	c.(580-582)aTg>aAg	p.M194K		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TTGTTGGATATGAGAATTAAA	0.313000													20	45					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167435950	167435950	+	Silent	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:167435950C>A	uc003qvj.3	+	7	718	c.633C>A	c.(631-633)ccC>ccA	p.P211P	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Silent_p.P164P|FGFR1OP_uc003qvk.3_Silent_p.P191P	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	211					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGTCAGAACCCAAGAGCAAAA	0.428000			T	FGFR1	"""MPD, NHL"""								8	20					1.58986e-06	1.62519e-06	1	1	0
PLIN3	10226	broad.mit.edu	37	19	4839466	4839466	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4839466A>C	uc002mbj.2	-	7	1220	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	PLIN3_uc002mbk.2_Missense_Mutation_p.I336S|PLIN3_uc002mbl.3_Missense_Mutation_p.I347S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	348					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GAGGCCCTGAATGCTGGACCC	0.647000													25	45					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119063868	119063868	+	Silent	SNP	C	C	T	rs116554211	byFrequency	TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr11:119063868C>T	uc010rze.2	-	4	556	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	114										lung(3)|stomach(1)	4						TACCTAGCTGCCCCCGAAGGC	0.587000													16	24					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80037368	80037368	+	Splice_Site	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:80037368G>C	uc003kgz.3	+	11	1906	c.1653_splice	c.e11+1	p.Q551_splice		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	551					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACAGAATCAGGTCAGGCAAAT	0.333000								Mismatch excision repair (MMR)					23	47					0	0	1	0	0
URB1	9875	broad.mit.edu	37	21	33755763	33755763	+	Silent	SNP	G	G	A	rs2833795	by1000genomes	TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr21:33755763G>A	uc002ypn.2	-	3	628	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_014825	NP_055640	O60287	NPA1P_HUMAN	Homo sapiens URB1 ribosome biogenesis 1 homolog (S. cerevisiae) (URB1), mRNA.	179						nucleolus	protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AGGGTGTACAGGGTCTTTTTA	0.562000													4	87					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085791	17085791	+	Missense_Mutation	SNP	G	G	A	rs2297532	by1000genomes	TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:17085791G>A	uc010ock.2	-	7	1030	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCTGTACAACGCCGGATCTGG	0.692000													4	11					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90212190	90212190	+	RNA	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:90212190C>A	uc010yts.2	+	37		c.4877C>A								Parts of antibodies, mostly variable regions.																		TCACTCTCACCATCAGCAGCC	0.532000													43	165					5.2432e-18	5.7885e-18	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101865152	101865152	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:101865152A>G	uc002bxa.2	-	17	2591	c.2277T>C	c.(2275-2277)gcT>gcC	p.A759A	PCSK6_uc010bpd.3_Silent_p.A556A|PCSK6_uc002bwy.3_Silent_p.A759A|PCSK6_uc010bpe.3_Silent_p.A743A|PCSK6_uc002bxb.2_Silent_p.A746A	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	760	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGCGTCGCAGCTCTGCTGG	0.587000													10	32					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899235	103899235	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:103899235G>A	uc001kum.3	+	4	1009	c.970G>A	c.(970-972)Gca>Aca	p.A324T	PPRC1_uc001kun.3_Missense_Mutation_p.A204T|PPRC1_uc010qqj.2_Missense_Mutation_p.A324T|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	324					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)		CACCCACCTGGCATCACTTGA	0.602000													36	78					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738660	102738660	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:102738660G>A	uc001krw.2	+	6	1082	c.698G>A	c.(697-699)gGt>gAt	p.G233D	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.G233D|SEMA4G_uc001krx.3_Missense_Mutation_p.G233D|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	233	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGTGCAGTGGGTGATGATGAC	0.587000													86	146					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216194	56216194	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:56216194A>G	uc001shu.2	-	4	1917	c.1861T>C	c.(1861-1863)Ttt>Ctt	p.F621L	DNAJC14_uc001shx.1_Missense_Mutation_p.F621L|DNAJC14_uc009zob.1_Missense_Mutation_p.F621L	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	621					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CGAGAACCAAATGAGATGTGA	0.463000											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	43					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216271073	216271073	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:216271073C>T	uc002vfa.3	-	18	3140	c.2874G>A	c.(2872-2874)agG>agA	p.R958R	FN1_uc002vfc.3_Silent_p.R958R|FN1_uc002vfe.3_Silent_p.R958R|FN1_uc002vff.3_Silent_p.R958R|FN1_uc002vfg.3_Silent_p.R958R|FN1_uc002vfh.3_Silent_p.R958R|FN1_uc002vfi.3_Silent_p.R958R|FN1_uc002vfj.3_Silent_p.R958R|FN1_uc002vfb.3_Silent_p.R958R	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	958	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGGTGTTCCTGCTGATGG	0.597000													20	100					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260463	16260463	+	Silent	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:16260463T>G	uc001axk.1	+	10	7932	c.7728T>G	c.(7726-7728)gtT>gtG	p.V2576V	SPEN_uc010obp.1_Silent_p.V2535V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2576	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCCGCCAGTTGACTCTAAAA	0.527000													9	13					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223900487	223900487	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:223900487C>A	uc001hob.4	+	0	369	c.145C>A	c.(145-147)Ccg>Acg	p.P49T	CAPN2_uc010puy.2_Intron	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	49	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTTCCAGGACCCGTCCTTCCC	0.672000													20	25					1.12875e-08	1.17119e-08	1	1	0
NPHP1	4867	broad.mit.edu	37	2	110936067	110936067	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:110936067G>A	uc002tfn.4	-	3	356	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	NPHP1_uc002tfm.4_Missense_Mutation_p.L88F|NPHP1_uc002tfl.4_Missense_Mutation_p.L88F|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Missense_Mutation_p.L88F|NPHP1_uc010fjv.1_Missense_Mutation_p.L88F|NPHP1_uc021vme.1_Missense_Mutation_p.L88F	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	88					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGTCCAAAAGAGTATGCTCC	0.358000													3	49					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63991615	63991615	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:63991615G>A	uc001srp.1	-	13	1616	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	479					multicellular organismal development|spermatid development	integral to membrane		p.P479P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCAAATTCGGGAGCACAGGTA	0.323000													18	64					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93397675	93397675	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:93397675A>G	uc001ybc.4	+	5	696	c.436A>G	c.(436-438)Aca>Gca	p.T146A	CHGA_uc001ybd.4_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	146					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGTGAAGCCACAGACGGAGC	0.597000													30	57					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73872839	73872839	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:73872839G>A	uc002jpw.3	-	1	758	c.731C>T	c.(730-732)gCt>gTt	p.A244V	TRIM47_uc002jpv.3_Missense_Mutation_p.A6V	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	244						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCAATGCCAGCACCCAGCTC	0.587000													82	46					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339398	124339398	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:124339398C>G	uc001lgk.1	+	9	1090	c.984C>G	c.(982-984)gaC>gaG	p.D328E	DMBT1_uc001lgl.1_Missense_Mutation_p.D328E|DMBT1_uc001lgm.1_Missense_Mutation_p.D328E|DMBT1_uc021qaf.1_Missense_Mutation_p.D328E|DMBT1_uc021qag.1_Missense_Mutation_p.D328E|DMBT1_uc021qah.1_Missense_Mutation_p.D328E|DMBT1_uc009xzz.1_Missense_Mutation_p.D328E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D180E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	328	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532000													20	68					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65362549	65362549	+	Silent	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:65362549G>C	uc002jfy.3	-	0	173	c.87C>G	c.(85-87)ccC>ccG	p.P29P	PSMD12_uc002jga.3_Silent_p.P29P|PSMD12_uc002jfz.3_5'UTR|PSMD12_uc010det.1_Silent_p.P29P	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	29					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding	p.P29T(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCGCACACTCGGGTAGGCGCT	0.706000													7	12					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8608961	8608961	+	Silent	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr20:8608961T>G	uc002wnb.3	+	3	270	c.267T>G	c.(265-267)ctT>ctG	p.L89L	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Silent_p.L89L|PLCB1_uc002wmz.1_Silent_p.L89L|PLCB1_uc002wna.3_Silent_p.L89L|PLCB1_uc002wnc.1_5'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	89					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TACGTGAACTTTTGGATGTGG	0.443000													27	68					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53220041	53220041	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:53220041A>T	uc003dgl.3	+	11	1437	c.1084A>T	c.(1084-1086)Aag>Tag	p.K362*	PRKCD_uc003dgm.3_Nonsense_Mutation_p.K362*	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	362	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CAGCTTCGGGAAGGTGAGGGC	0.602000													186	167					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511773	4511773	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4511773G>A	uc002mar.1	-	2	2157	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	719	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCACTGCAGACGGTGTCCT	0.572000													11	161					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142281511	142281511	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:142281511C>A	uc011dbj.2	+	6	644	c.609C>A	c.(607-609)ttC>ttA	p.F203L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.F203L|ARHGAP26_uc003lmw.3_Missense_Mutation_p.F203L	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	203					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGGCCTTCCTGCAAGGAC	0.458000													6	123					0.00116845	0.00118563	1	1	0
DST	667	broad.mit.edu	37	6	56501422	56501422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:56501422C>T	uc003pcy.4	-	8	1490	c.1382G>A	c.(1381-1383)tGg>tAg	p.W461*	DST_uc021zay.1_Nonsense_Mutation_p.W827*|DST_uc021zax.1_Nonsense_Mutation_p.W461*|DST_uc003pdc.4_Nonsense_Mutation_p.W461*|DST_uc003pdd.4_Nonsense_Mutation_p.W461*	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	787					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCCAGCTCCACTGCGTCTG	0.453000													17	14					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862732	154862732	+	Silent	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr7:154862732G>T	uc003wlu.1	+	0	187	c.123G>T	c.(121-123)gtG>gtT	p.V41V	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	41						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTTCGGAGTGCTTATTCTCA	0.642000													38	53					3.77016e-25	4.29985e-25	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10931696	10931696	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:10931696A>G	uc003mzo.3	+	19	1953	c.1657A>G	c.(1657-1659)Agt>Ggt	p.S553G	SYCP2L_uc010jow.3_Missense_Mutation_p.S173G	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	553						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCCTCCCAGTAGTGGCAGTGG	0.398000													26	46					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611546	19611546	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:19611546A>G	uc001bbv.1	-	3	647	c.570T>C	c.(568-570)ttT>ttC	p.F190F		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	190					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCAGTCCAAAGTGCCTGA	0.612000													84	130					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26427053	26427053	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:26427053A>C	uc002rgy.3	-	11	1228	c.1098T>G	c.(1096-1098)atT>atG	p.I366M	HADHA_uc010yks.2_Missense_Mutation_p.I279M	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	366					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	p.I366T(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CTGCACCAAGAATAGCCAGAT	0.468000													30	83					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834101	94834101	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:94834101G>A	uc001kil.2	+	1	271	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CYP26A1_uc001kik.1_Missense_Mutation_p.G7S	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	76					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CAGGAAATACGGCTTCATCTA	0.657000													9	19					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724017	58724017	+	Silent	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:58724017G>C	uc002qrq.1	+	8	1926	c.1467G>C	c.(1465-1467)cgG>cgC	p.R489R	ZNF274_uc002qrr.1_Silent_p.R457R|ZNF274_uc002qrs.1_Silent_p.R384R|ZNF274_uc010eum.1_Silent_p.R249R	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	490					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCTTCAGTCGGAGTACTAAAC	0.388000													17	13					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98925573	98925573	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:98925573G>C	uc001tfh.2	+	2	817	c.522G>C	c.(520-522)caG>caC	p.Q174H	TMPO_uc001tfi.2_Missense_Mutation_p.Q174H|TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfj.3_Missense_Mutation_p.Q174H|TMPO_uc001tfk.3_Missense_Mutation_p.Q174H	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	174	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATACAAGGCAGAATGGAAGTA	0.323000													32	97					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911000	59911000	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:59911000T>C	uc002age.3	+	2	1012	c.563T>C	c.(562-564)aTa>aCa	p.I188T	GCNT3_uc002agd.3_Missense_Mutation_p.I188T|GCNT3_uc021smz.1_Missense_Mutation_p.I188T	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	188					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGTCTTCATAGCCAGTAAG	0.498000													25	37					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722359	53722359	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:53722359C>T	uc001sct.3	-	1	974	c.867G>A	c.(865-867)cgG>cgA	p.R289R	SP7_uc001scv.3_Silent_p.R289R|SP7_uc001scu.3_Silent_p.R271R	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TGGGCTTCTTCCGCAGCCCAG	0.657000													13	22					0	0	1	0	0
MADCAM1	8174	broad.mit.edu	37	19	504883	504883	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:504883C>T	uc002los.3	+	4	1077	c.1067C>T	c.(1066-1068)cCa>cTa	p.P356L	MADCAM1_uc002lot.3_Missense_Mutation_p.P269L|MADCAM1_uc010drq.3_Missense_Mutation_p.P174L|TPGS1_uc002lou.3_5'Flank|Mir_324_uc021ulw.1_5'Flank	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	356					cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACCCACCAGCTTCTCTG	0.672000													16	31					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249148	73249148	+	Silent	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr7:73249148A>C	uc003tzj.2	-	5	703	c.663T>G	c.(661-663)tcT>tcG	p.S221S		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	221										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				TCCTTGGCAGAGATGCCGGAT	0.637000													32	55					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208213052	208213052	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:208213052C>T	uc001hgz.3	-	23	5172	c.4414G>A	c.(4414-4416)Ggc>Agc	p.G1472S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1472					axon guidance	integral to membrane|intracellular|plasma membrane		p.G1472D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAATGGGGCCCTTCTCCATC	0.622000													26	67					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24450018	24450018	+	Splice_Site	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:24450018T>C	uc003ned.1	-	15	1557	c.1446_splice	c.e15+1	p.K482_splice	GPLD1_uc010jpr.1_Splice_Site_p.K319_splice|GPLD1_uc010jps.1_Splice_Site_p.K482_splice	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	482						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CAGCCTTACTTTGTAGGTGAG	0.632000													25	31					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35569920	35569920	+	Silent	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:35569920G>C	uc001bym.3	+	4	590	c.444G>C	c.(442-444)gtG>gtC	p.V148V	ZMYM1_uc009vus.1_Non-coding_Transcript|ZMYM1_uc001byn.3_Silent_p.V148V|ZMYM1_uc010ohu.2_Silent_p.V148V|ZMYM1_uc001byo.3_5'UTR|ZMYM1_uc009vut.3_Silent_p.V73V	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	148						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAGGATGTGATTAGTGTCC	0.308000													25	34					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124536482	124536482	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:124536482T>A	uc003eho.3	-	7	1411	c.1114A>T	c.(1114-1116)Att>Ttt	p.I372F	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	372	VWFA.				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)		TATGCATTAATAATCAGTTGA	0.463000													23	22					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063125	9063125	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:9063125G>C	uc003jek.2	-	17	3104	c.2392C>G	c.(2392-2394)Cgt>Ggt	p.R798G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	798	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGCAGTCACGGCTGCACTGT	0.597000													4	215					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153690653	153690653	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr4:153690653G>C	uc003imy.3	-	1	2325	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V	TIGD4_uc021xtf.1_Missense_Mutation_p.L502V	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	502					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAATTTTCAAGGTCTGCTAAA	0.284000													9	28					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8422784	8422784	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:8422784T>C	uc001ape.3	-	16	2671	c.1861A>G	c.(1861-1863)Agc>Ggc	p.S621G	RERE_uc001apf.3_Missense_Mutation_p.S621G|RERE_uc010nzx.1_Missense_Mutation_p.S353G|RERE_uc001apd.3_Missense_Mutation_p.S67G	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	621					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGTCATTGCTGGAGGTACTG	0.577000													52	103					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445075	186445075	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:186445075A>C	uc011bsa.2	+	4	848	c.614A>C	c.(613-615)aAt>aCt	p.N205T	KNG1_uc003fqr.3_Missense_Mutation_p.N205T|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	205	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTGCAAACGAATTGTTCCAAA	0.348000													19	35					0	0	1	0	0
MADCAM1	8174	broad.mit.edu	37	19	504882	504882	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:504882C>A	uc002los.3	+	4	1076	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T	MADCAM1_uc002lot.3_Missense_Mutation_p.P269T|MADCAM1_uc010drq.3_Missense_Mutation_p.P174T|TPGS1_uc002lou.3_5'Flank|Mir_324_uc021ulw.1_5'Flank	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	356					cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCACCCACCAGCTTCTCT	0.672000													16	31					1.40151e-16	1.53499e-16	1	1	0
ACACA	31	broad.mit.edu	37	17	35615281	35615281	+	Silent	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:35615281A>T	uc002hnm.3	-	12	1595	c.1404T>A	c.(1402-1404)atT>atA	p.I468I	ACACA_uc002hnk.3_Silent_p.I390I|ACACA_uc002hnl.3_Silent_p.I410I|ACACA_uc002hnn.3_Silent_p.I468I|ACACA_uc002hno.3_Silent_p.I505I|ACACA_uc010cuz.3_Silent_p.I468I	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	468	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATATAGAGGAATCCCCATGG	0.368000													43	37					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819761	203819761	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:203819761C>T	uc001hac.3	+	17	2674	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	ZC3H11A_uc001had.3_Silent_p.L686L|ZC3H11A_uc001hae.3_Silent_p.L686L|ZC3H11A_uc001haf.3_Silent_p.L686L|ZC3H11A_uc010pqm.2_Silent_p.L632L	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	686							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGAAGCCACTCAGCTCCAGCA	0.502000													51	64					0	0	1	0	0
NAPA	8775	broad.mit.edu	37	19	47996229	47996229	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:47996229T>C	uc002phd.2	-	6	868	c.550A>G	c.(550-552)Atc>Gtc	p.I184V	LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Missense_Mutation_p.I184V|NAPA_uc002phc.2_Missense_Mutation_p.I71V|NAPA_uc010elf.2_Missense_Mutation_p.I78V	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	184					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TGTTCGTAGATGTCAATGGCC	0.607000													58	86					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092459	39092459	+	Splice_Site	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:39092459C>G	uc002hvm.1	-	2	985	c.396_splice	c.e2+1	p.Q132_splice	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Intron|KRT23_uc002hvn.1_Intron	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	132	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCATCTTACCTGCTCCTGC	0.517000													29	23					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102558	13102558	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:13102558A>T	uc010shp.2	-	0	761	c.761T>A	c.(760-762)cTg>cAg	p.L254Q		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	254						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTACAGCAGCAGGAAAACCCA	0.577000													114	97					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59082640	59082640	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:59082640G>A	uc002qto.3	-	1	678	c.117C>T	c.(115-117)ggC>ggT	p.G39G	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Silent_p.G39G|MZF1_uc010euu.1_Silent_p.G80G	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	39					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CAGCTTCAGGGCCTGGGTCCC	0.657000													13	27					0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101152488	101152488	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:101152488G>A	uc002bwk.3	+	3	836	c.67G>A	c.(67-69)Gct>Act	p.A23T	ASB7_uc002bwj.3_Missense_Mutation_p.A23T	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	23					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GGCCGCGGTGGCTGCTGGGGA	0.512000													48	69					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285209	198285209	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:198285209T>G	uc002uue.3	-	3	406	c.358A>C	c.(358-360)Aaa>Caa	p.K120Q	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.K120Q|SF3B1_uc002uug.3_Missense_Mutation_p.K120Q	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)			CTATGCTTTTTGTATTCATCT	0.368000			Mis		myelodysplastic syndrome								6	154					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70991969	70991969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:70991969G>A	uc002asr.3	-	1	213	c.109C>T	c.(109-111)Cga>Tga	p.R37*	UACA_uc010uke.2_Nonsense_Mutation_p.R37*|UACA_uc002asq.3_Nonsense_Mutation_p.R24*|UACA_uc010bin.1_Nonsense_Mutation_p.R23*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	37						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCATCAATCGGTCATCATAT	0.363000													16	30					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32320043	32320043	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:32320043A>G	uc001iwe.4	-	13	2009	c.1539T>C	c.(1537-1539)acT>acC	p.T513T		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	513					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CATATTCCTTAGTTTTGTCTT	0.313000			T	"""RET, ALK"""	NSCLC								8	19					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972919	25972919	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:25972919C>T	uc002rgs.2	-	10	1727	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	ASXL2_uc002rgt.1_Silent_p.E242E	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGGTTCTTCTCAGATTCCT	0.443000													26	24					0	0	1	0	0
C6orf106	64771	broad.mit.edu	37	6	34664262	34664262	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:34664262T>C	uc003ojr.2	-	0	364	c.119A>G	c.(118-120)aAt>aGt	p.N40S	C6orf106_uc003ojs.2_Missense_Mutation_p.N40S	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	Homo sapiens chromosome 6 open reading frame 106 (C6orf106), transcript variant 1, mRNA.	40										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						ACCGGCAGGATTGAGCTGGAA	0.662000													4	30					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24654679	24654679	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:24654679A>T	uc001wmv.1	-	12	2285	c.1264T>A	c.(1264-1266)Tca>Aca	p.S422T	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Missense_Mutation_p.S84T|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.S286T|IPO4_uc001wmy.1_Missense_Mutation_p.S286T|IPO4_uc001wmz.2_Missense_Mutation_p.S422T	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	422					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGTTTTCTGAGAACTGGCCC	0.562000													47	61					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915387	32915387	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:32915387C>A	uc003cff.3	+	1	993	c.930C>A	c.(928-930)agC>agA	p.S310R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	310					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCCACAGCTTCATCTACC	0.607000													32	116					1.99505e-19	2.2567e-19	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1714403	1714403	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:1714403G>A	uc004cqa.3	+	2	1085	c.889G>A	c.(889-891)Gag>Aag	p.E297K	AKAP17A_uc010ncx.1_Missense_Mutation_p.E297K|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'UTR	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	297					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGAAGCGGAGGAGAGGCAGCG	0.607000													58	12					0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425662	74425662	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:74425662A>G	uc010vmt.1	+	5	834	c.833A>G	c.(832-834)aAt>aGt	p.N278S				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	339										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						GTGGATGATAATCTCAAGACT	0.537000													22	190					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201778083	201778083	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:201778083T>A	uc002uwr.3	-	16	1853	c.1582A>T	c.(1582-1584)Agt>Tgt	p.S528C		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	528					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTCAGATCACTATTGACGAGG	0.428000													35	27					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899739	130899739	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:130899739T>G	uc010yzw.1	-	1	1561	c.817A>C	c.(817-819)Agc>Cgc	p.S273R	CCDC74B_uc002tqm.1_Missense_Mutation_p.S171R|CCDC74B_uc002tqn.1_Missense_Mutation_p.S105R|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	171										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GACTGGAAGCTTGACGTGGAG	0.647000													137	159					0	0	1	0	0
ASIP	434	broad.mit.edu	37	20	32856797	32856797	+	Splice_Site	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr20:32856797A>G	uc002xah.1	+	3	233	c.223_splice	c.e3-1	p.K75_splice		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	75	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						TCCCACGCAGAAGGAGGCTTC	0.697000													20	21					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113067649	113067649	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:113067649G>A	uc002thq.1	+	3	918	c.524G>A	c.(523-525)aGg>aAg	p.R175K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	175							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAACAATACAGGCAAGCTAAA	0.378000													24	232					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070072	14070072	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:14070072G>A	uc002mxt.3	+	6	1006	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	DCAF15_uc002mxu.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	334										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGCCAAAGAGGCCAAGGGCGG	0.682000													4	3					0	0	1	0	0
PNRC1	10957	broad.mit.edu	37	6	89793801	89793801	+	Silent	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:89793801T>C	uc003pmv.3	+	1	1055	c.870T>C	c.(868-870)ccT>ccC	p.P290P	PNRC1_uc021zcp.1_Silent_p.P211P|PNRC1_uc003pmx.3_Silent_p.P105P	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CACCTTCTCCTAGTGTTCTTC	0.413000										Multiple Myeloma(7;0.094)			31	44					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245294	119245294	+	Splice_Site	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:119245294T>C	uc021zeh.1	-	2	320	c.305_splice	c.e2-1	p.G102_splice	MCM9_uc003pyh.3_Splice_Site_p.G102_splice	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	102					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CAGGCAAACCTGATGGAGAAA	0.393000													17	28					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22064932	22064932	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr22:22064932G>C	uc002zvl.3	-	1	434	c.102C>G	c.(100-102)gaC>gaG	p.D34E	YPEL1_uc002zvm.3_Non-coding_Transcript	NM_013313	NP_037445	O60688	YPEL1_HUMAN	Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.	34						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGATGAGCTCGTCATGATTGG	0.438000													67	146					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131386741	131386741	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:131386741G>A	uc004bvl.4	+	44	6094	c.5952G>A	c.(5950-5952)aaG>aaA	p.K1984K	SPTAN1_uc004bvm.4_Silent_p.K1989K|SPTAN1_uc004bvn.4_Silent_p.K1964K|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1984					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAACTGGAAGGCGGACGTGG	0.562000													50	70					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51946986	51946986	+	Splice_Site	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:51946986A>C	uc001csq.1	-	2	126	c.34_splice	c.e2-1	p.L12_splice	EPS15_uc009vyz.1_Splice_Site_p.L12_splice	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	12					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding			endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCACTTGATAACTGAAATAAA	0.274000			T	MLL	ALL								20	46					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13671374	13671374	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:13671374A>G	uc011avc.2	+	13	3279	c.2897A>G	c.(2896-2898)aAc>aGc	p.N966S	FBLN2_uc011auz.2_Missense_Mutation_p.N945S|FBLN2_uc011avb.2_Missense_Mutation_p.N919S|FBLN2_uc011ava.2_Missense_Mutation_p.N966S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	958	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACGTGTGAGAACACACTCGGC	0.642000													32	142					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12052666	12052667	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:12052666_12052667delAC	uc001atn.4	+	3	683_684	c.230_231delAC	c.(229-231)gacfs	p.D77fs	MFN2_uc009vni.3_Frame_Shift_Del_p.D77fs	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	77					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGGTTCTGGACGTCAAAGGTT	0.525													129	219	---	---	---	---					
ATG4C	84938	broad.mit.edu	37	1	63284805	63284806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:63284805_63284806insA	uc001dat.3	+	4	712_713	c.524_525insA	c.(523-525)acafs	p.T175fs	ATG4C_uc001dau.3_Frame_Shift_Ins_p.T175fs	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	175					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AAAACCCCAACAATTTCTCTGA	0.366													9	25	---	---	---	---					
NUAK2	81788	broad.mit.edu	37	1	205272646	205272646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:205272646delG	uc001hce.3	-	6	1946	c.1819delC	c.(1819-1821)ctgfs	p.L607fs		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	607					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTGTCAGGGAAAAGCAG	0.642													32	53	---	---	---	---					
CLK1	1195	broad.mit.edu	37	2	201721517	201721517	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:201721517delG	uc002uwe.2	-	8	1126	c.945delC	c.(943-945)accfs	p.T315fs	CLK1_uc010zhi.1_Frame_Shift_Del_p.T357fs|CLK1_uc002uwf.2_Frame_Shift_Del_p.T89fs|CLK1_uc002uwg.2_Frame_Shift_Del_p.T164fs	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	315	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GATTTATTAAGGTGCGTTCAT	0.328													98	66	---	---	---	---					
TRNT1	51095	broad.mit.edu	37	3	3182301	3182309	+	In_Frame_Del	DEL	CAGAGATCT	CAGAGATCT	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:3182301_3182309delCAGAGATCT	uc003bpp.4	+	3	552_560	c.450_458delCAGAGATCT	c.(448-459)cgcagagatctc>cgc	p.RDL151del	TRNT1_uc010hbv.3_In_Frame_Del_p.RDL151del|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	151					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATGCGGAACGCAGAGATCTCACTATAAAT	0.354													24	81	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196214285	196214286	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:196214285_196214286insT	uc003fwq.3	-	2	1137_1138	c.542_543insA	c.(541-543)aagfs	p.K181fs	RNF168_uc010iah.3_Frame_Shift_Ins_p.K14fs	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	181					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CAATGCTTAGCTTTCTTGCCAG	0.470													89	90	---	---	---	---					
MFAP3L	9848	broad.mit.edu	37	4	170913188	170913189	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr4:170913188_170913189insA	uc003isp.4	-	2	748_749	c.570_571insT	c.(568-573)tttaggfs	p.F190fs	MFAP3L_uc003isn.4_Frame_Shift_Ins_p.F87fs|MFAP3L_uc021xuj.1_Frame_Shift_Ins_p.F87fs	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	190						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCTTCGGTCCTAAAGAACTCAT	0.525													52	108	---	---	---	---					
PAM	5066	broad.mit.edu	37	5	102203042	102203042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:102203042delT	uc003knt.3	+	1	528	c.155delT	c.(154-156)attfs	p.I52fs	PAM_uc003knw.3_Frame_Shift_Del_p.I52fs|PAM_uc003kns.3_Frame_Shift_Del_p.I52fs|PAM_uc003knu.3_Frame_Shift_Del_p.I52fs|PAM_uc011cuz.2_5'UTR|PAM_uc003knv.3_Frame_Shift_Del_p.I52fs	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	52	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTAGTTCCTATTGATTCATCA	0.373													21	58	---	---	---	---					
GDAP1	54332	broad.mit.edu	37	8	75274164	75274164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr8:75274164delA	uc003yah.3	+	3	609	c.530delA	c.(529-531)gaafs	p.E177fs	GDAP1_uc011lfj.2_Frame_Shift_Del_p.E62fs|GDAP1_uc003yai.3_Frame_Shift_Del_p.E109fs	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	177	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTTGCTGAAGAAAACCCAGAT	0.373													16	15	---	---	---	---					
PTGR1	22949	broad.mit.edu	37	9	114332439	114332439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:114332439delC	uc010mue.3	-	8	1074	c.811delG	c.(811-813)gtcfs	p.V271fs	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Frame_Shift_Del_p.V271fs|PTGR1_uc004bfh.2_Frame_Shift_Del_p.V271fs|PTGR1_uc004bfi.3_Frame_Shift_Del_p.V271fs|PTGR1_uc004bfj.3_Frame_Shift_Del_p.V148fs	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	271					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CGGTAGACGACAAAAGCTTCC	0.547													7	56	---	---	---	---					
C2CD3	26005	broad.mit.edu	37	11	73748552	73748561	+	Frame_Shift_Del	DEL	AGGTTACTGG	AGGTTACTGG	-	rs146977583		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr11:73748552_73748561delAGGTTACTGG	uc001ouu.2	-	29	6070_6079	c.5843_5852delCCAGTAACCT	c.(5842-5853)tccagtaacctgfs	p.S1948fs	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1948						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGCAACACCAGGTTACTGGATTTCTCCAG	0.490													29	69	---	---	---	---					
PDZRN4	29951	broad.mit.edu	37	12	41966603	41966603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:41966603delA	uc010skn.2	+	9	2030	c.2022delA	c.(2020-2022)agafs	p.R674fs	PDZRN4_uc001rmq.4_Frame_Shift_Del_p.R416fs|PDZRN4_uc009zjz.3_Frame_Shift_Del_p.R414fs|PDZRN4_uc001rmr.3_Frame_Shift_Del_p.R301fs	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	674							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGAACTGAGAAACATTGAGC	0.458													64	149	---	---	---	---					
GALNT6	11226	broad.mit.edu	37	12	51751976	51751982	+	Frame_Shift_Del	DEL	ACCAGGA	ACCAGGA	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:51751976_51751982delACCAGGA	uc001ryk.2	-	7	1657_1663	c.1432_1438delTCCTGGT	c.(1432-1440)tcctggtacfs	p.S478fs	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Frame_Shift_Del_p.S478fs|GALNT6_uc001ryj.1_Frame_Shift_Del_p.S43fs	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	478					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGTGCAGGTACCAGGAAAAGTTGTGA	0.517													33	210	---	---	---	---					
RNF34	80196	broad.mit.edu	37	12	121855373	121855374	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:121855373_121855374delAG	uc001uak.1	+	3	472_473	c.295_296delAG	c.(295-297)agafs	p.R99fs	RNF34_uc010szw.2_Frame_Shift_Del_p.R99fs|RNF34_uc001ual.1_Frame_Shift_Del_p.R98fs	NM_194271	NP_919247	Q969K3	RNF34_HUMAN	Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA.	98					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AAATCTCCGTAGATGTTCTACT	0.416													44	39	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23906370	23906371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr13:23906370_23906371insA	uc001uon.2	-	9	12233_12234	c.11644_11645insT	c.(11644-11646)tctfs	p.S3882fs	SACS_uc001uoo.2_Frame_Shift_Ins_p.S3735fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3882					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACAGACCAGAAACTACTCTC	0.416													14	31	---	---	---	---					
BRMS1L	84312	broad.mit.edu	37	14	36300676	36300676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:36300676delT	uc001wtl.3	+	1	329	c.203delT	c.(202-204)cttfs	p.L68fs	BRMS1L_uc010tpx.1_Frame_Shift_Del_p.L20fs	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	68					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATGTCCAATCTTGAAAAACAG	0.333													80	123	---	---	---	---					
C15orf29	79768	broad.mit.edu	37	15	34445066	34445072	+	Frame_Shift_Del	DEL	ATATGTT	ATATGTT	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:34445066_34445072delATATGTT	uc001zhp.3	-	3	517_523	c.357_363delAACATAT	c.(355-363)cgaacatatfs	p.R119fs	C15orf29_uc010ubz.2_Frame_Shift_Del_p.R23fs|C15orf29_uc010uca.1_Frame_Shift_Del_p.R119fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	119						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		AGTTAACCAAATATGTTCGACTATCAT	0.411													9	35	---	---	---	---					
PRPF8	10594	broad.mit.edu	37	17	1585300	1585301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:1585300_1585301insT	uc002fte.3	-	4	580_581	c.466_467insA	c.(466-468)agafs	p.R156fs		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	156						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCTCCTATCTCTTTTTTCTCGG	0.510													10	113	---	---	---	---					
TECR	9524	broad.mit.edu	37	19	14674655	14674657	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:14674655_14674657delCGT	uc002mza.3	+	4	337_339	c.207_209delCGT	c.(205-210)cccgtg>ccg	p.V70del	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_In_Frame_Del_p.V85del|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	70					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						AGAAGCTGCCCGTGGGCACCACG	0.660													35	54	---	---	---	---					
ZNF836	162962	broad.mit.edu	37	19	52658860	52658860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:52658860delT	uc010ydj.2	-	4	2598	c.2076delA	c.(2074-2076)aaafs	p.K692fs	ZNF836_uc010ydi.2_Frame_Shift_Del_p.K692fs	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AATTGTAAGGTTTCTCTCCAG	0.393													20	17	---	---	---	---					
ZNF274	10782	broad.mit.edu	37	19	58723654	58723658	+	Frame_Shift_Del	DEL	TACCT	TACCT	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:58723654_58723658delTACCT	uc002qrq.1	+	8	1563_1567	c.1104_1108delTACCT	c.(1102-1110)gataccttgfs	p.D368fs	ZNF274_uc002qrr.1_Frame_Shift_Del_p.D336fs|ZNF274_uc002qrs.1_Frame_Shift_Del_p.D263fs|ZNF274_uc010eum.1_Frame_Shift_Del_p.D128fs	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	369					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CATTAGAAGATACCTTGCAGGGTGG	0.483													12	38	---	---	---	---					
GATA1	2623	broad.mit.edu	37	X	48650855	48650855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:48650855delA	uc004dkq.4	+	3	815	c.724delA	c.(724-726)atcfs	p.I242fs		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	242					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L241L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CAGGCCCCTCATCCGGCCCAA	0.562			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								99	33	---	---	---	---					
PRRG3	79057	broad.mit.edu	37	X	150869380	150869380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:150869380delC	uc022cgt.1	+	3	620	c.571delC	c.(571-573)cccfs	p.P191fs	PRRG3_uc004few.2_Frame_Shift_Del_p.P191fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	191						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACCACCCCTCCCCCCTCCTA	0.647													110	45	---	---	---	---					
