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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ESPNP	284729	broad.mit.edu	37	1	17023348	17023348	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:17023348T>C	uc001azn.1	-	9	1600	c.1486A>G	c.(1486-1488)AAG>GAG	p.K496E		NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						TTCAGGCTCTTGCCTGCCTTA	0.617000													5	30					0	0	0.000602	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447533	29447533	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:29447533G>A	uc001brn.1	-	2	868	c.808C>T	c.(808-810)CTT>TTT	p.L270F		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	270						integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GGGGCCCCAAGGAGGAGCTCC	0.622000													11	15					0	0	0.013537	0	0
KIAA0467	23334	broad.mit.edu	37	1	43913762	43913762	+	Silent	SNP	C	T	T	rs138585463	byFrequency	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:43913762C>T	uc001cjk.1	+	54	7341	c.6879C>T	c.(6877-6879)TTC>TTT	p.F2293F	KIAA0467_uc001cjl.1_Silent_p.F281F	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3192						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACAGTTCTTCGTGGTGCTCA	0.637000													11	16					0	0	0.013537	0	0
ABCA4	24	broad.mit.edu	37	1	94548962	94548962	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:94548962G>A	uc001dqh.2	-	7	908	c.804C>T	c.(802-804)ATC>ATT	p.I268I	ABCA4_uc010otn.1_Silent_p.I268I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	268	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTCAGATTGATACCTTGAG	0.323000													85	104					0	0	0.014410	0	0
PTPN22	26191	broad.mit.edu	37	1	114402065	114402065	+	Silent	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:114402065A>G	uc001eds.2	-	2	235	c.105T>C	c.(103-105)TCT>TCC	p.S35S	uc001edv.1_Intron|PTPN22_uc009wgq.2_Silent_p.S35S|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Silent_p.S35S|PTPN22_uc009wgr.2_Silent_p.S35S|PTPN22_uc009wgs.2_Silent_p.S35S|PTPN22_uc001edu.2_Silent_p.S35S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	35	Tyrosine-protein phosphatase.			S->E: Loss of phosphorylation by PKC/PRKCD.	negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTTGGTAGATTGCCTTT	0.373000													40	47					0	0	0.006999	0	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	A	A	rs146128865	byFrequency	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:152284263G>A	uc001ezu.1	-	3	3135	c.3099C>T	c.(3097-3099)CAC>CAT	p.H1033H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1033	Filaggrin 6.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis				8	356					0	0	0.004482	0	0
CABC1	56997	broad.mit.edu	37	1	227174187	227174187	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:227174187A>G	uc001hqm.1	+	20	5112	c.1693A>G	c.(1693-1695)ATC>GTC	p.I565V	CABC1_uc001hqn.1_Missense_Mutation_p.I565V|CABC1_uc009xeq.1_Missense_Mutation_p.I513V|CABC1_uc010pvq.1_Missense_Mutation_p.I286V|CABC1_uc010pvr.1_Missense_Mutation_p.I239V|CABC1_uc001hqo.1_Missense_Mutation_p.I286V|CABC1_uc009xer.1_Missense_Mutation_p.I81V	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	565					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				TGCCATCCTCATCCTGGGGGA	0.592000													38	45					0	0	0.006999	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134020	233134020	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:233134020G>A	uc001hvl.2	-	32	6003	c.5768C>T	c.(5767-5769)TCC>TTC	p.S1923F	PCNXL2_uc001hvk.1_Missense_Mutation_p.S575F|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1923						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCTTCACAGGATGACACCCC	0.592000													6	8					0	0	0.004482	0	0
ZMYND11	10771	broad.mit.edu	37	10	287963	287963	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr10:287963A>G	uc010pzt.1	+	10	1262	c.834A>G	c.(832-834)ATA>ATG	p.I278M	ZMYND11_uc001ifk.2_Missense_Mutation_p.I277M|ZMYND11_uc010pzu.1_Missense_Mutation_p.I278M|ZMYND11_uc010pzv.1_Missense_Mutation_p.I223M|ZMYND11_uc010pzw.1_Missense_Mutation_p.I193M|ZMYND11_uc001ifm.2_Missense_Mutation_p.I224M|ZMYND11_uc010pzx.1_Missense_Mutation_p.I278M|ZMYND11_uc001ifn.2_Missense_Mutation_p.I224M|ZMYND11_uc009xhg.2_Missense_Mutation_p.I261M|ZMYND11_uc009xhh.2_Missense_Mutation_p.I152M|ZMYND11_uc010pzy.1_Missense_Mutation_p.I130M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	238					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATTTCCAGATACCTAATCATG	0.328000													16	26					0	0	0.003163	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357165	20357165	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr10:20357165G>A	uc001iqg.1	+	4	1175	c.538G>A	c.(538-540)GGG>AGG	p.G180R	PLXDC2_uc001iqh.1_Missense_Mutation_p.G131R	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	180	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TGTGGCAACCGGGGGTAAGTG	0.358000													4	23					0	0	0.009096	0	0
PPRC1	23082	broad.mit.edu	37	10	103900396	103900396	+	Missense_Mutation	SNP	G	A	A	rs17847386		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr10:103900396G>A	uc001kum.2	+	5	2170	c.2131G>A	c.(2131-2133)GTG>ATG	p.V711M	PPRC1_uc001kun.2_Missense_Mutation_p.V591M|PPRC1_uc010qqj.1_Missense_Mutation_p.V711M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGCTCCTCGTGGAGTCAGA	0.532000													5	53					0	0	0.000602	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743059	26743059	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:26743059A>G	uc001mra.2	-	1	516	c.203T>C	c.(202-204)CTG>CCG	p.L68P	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.L68P	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	68	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						AGGGGTCCCCAGGACCGTGAC	0.522000													22	25					0	0	0.010504	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177469	57177469	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:57177469T>G	uc001nkg.2	-	12	1596	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.I396L|SLC43A3_uc010rjr.1_Missense_Mutation_p.I409L|SLC43A3_uc009yme.2_Missense_Mutation_p.I396L|SLC43A3_uc001nki.2_Missense_Mutation_p.I396L	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	396	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1						ACTTGCAGGATGAAGGTGAGG	0.632000													7	12					0	0	0.001984	0	0
USP28	57646	broad.mit.edu	37	11	113705056	113705056	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:113705056G>C	uc001poh.2	-	6	569	c.536C>G	c.(535-537)TCT>TGT	p.S179C	USP28_uc010rwy.1_Missense_Mutation_p.S54C|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.S179C|USP28_uc010rwz.1_Missense_Mutation_p.S179C	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	179					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTGAAAGAGAGACTGAAATAA	0.308000													17	14					0	0	0.004990	0	0
SIDT2	51092	broad.mit.edu	37	11	117063308	117063308	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:117063308G>A	uc001pqh.1	+	21	2041	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	SIDT2_uc010rxe.1_Missense_Mutation_p.R667H|SIDT2_uc001pqg.2_Missense_Mutation_p.R688H|SIDT2_uc001pqi.1_Missense_Mutation_p.R664H|SIDT2_uc001pqj.1_5'UTR	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	667	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATCTTCCGCCGCATCCTCCAC	0.632000													4	58					0	0	0.000602	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969112	118969112	+	Splice_Site	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:118969112C>T	uc001pvi.2	-	5	1148	c.728_splice	c.e5+1	p.W243_splice	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Splice_Site_p.W136_splice|DPAGT1_uc009zaq.2_Splice_Site|DPAGT1_uc001pvk.2_Splice_Site_p.W71_splice|DPAGT1_uc010ryz.1_Splice_Site_p.W243_splice|DPAGT1_uc001pvm.1_Nonsense_Mutation_p.W136*|DPAGT1_uc010rza.1_Splice_Site_p.W136_splice	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate						dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGCCTACTTACCAGTTGTGGT	0.463000													36	42					0	0	0.011902	0	0
TFCP2	7024	broad.mit.edu	37	12	51495806	51495806	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:51495806C>T	uc001rxw.2	-	11	1522	c.1063G>A	c.(1063-1065)GCA>ACA	p.A355T	TFCP2_uc001rxv.1_Missense_Mutation_p.A355T|TFCP2_uc009zlx.1_Missense_Mutation_p.A304T|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.A257T	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	355	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AATAAATCTGCCCCTGGAATA	0.343000													13	43					0	0	0.002450	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626598	56626598	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:56626598A>G	uc010sqj.1	+	5	670	c.413A>G	c.(412-414)GAC>GGC	p.D138G	SLC39A5_uc010sqi.1_Missense_Mutation_p.D29G|SLC39A5_uc010sqk.1_Missense_Mutation_p.D138G	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	138	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCGGGCCTGGACCTCCTTCAC	0.612000													26	44					0	0	0.008361	0	0
GLI1	2735	broad.mit.edu	37	12	57864354	57864354	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:57864354C>T	uc001snx.2	+	12	1909	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	GLI1_uc009zpq.2_Missense_Mutation_p.R483W	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	611					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCTGGATCGGATAGGTGG	0.617000													19	33					0	0	0.008871	0	0
MDGA2	161357	broad.mit.edu	37	14	47351354	47351354	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:47351354G>T	uc001wwj.3	-	11	2298	c.2102C>A	c.(2101-2103)ACA>AAA	p.T701K	MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.T472K|MDGA2_uc010ani.2_Missense_Mutation_p.T261K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	701					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAAGTTATATGTAATTAATTC	0.368000													7	18					8.12818e-05	9.27121e-05	0.001984	1	0
KCNK13	56659	broad.mit.edu	37	14	90528673	90528673	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:90528673G>A	uc001xye.1	+	1	566	c.124G>A	c.(124-126)GAG>AAG	p.E42K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	42						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CTCCGCGCTGGAGCTGGCGCA	0.721000													4	3					0	0	0.009096	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483550	102483550	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:102483550G>T	uc001yks.2	+	39	8138	c.7974G>T	c.(7972-7974)TGG>TGT	p.W2658C	DYNC1H1_uc001ykt.1_Missense_Mutation_p.W149C	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2658	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TTGGAAAGTGGCTGGTGTTGT	0.458000													4	67					0.000602214	0.000666086	0.000602	1	0
TECPR2	9895	broad.mit.edu	37	14	102910132	102910132	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:102910132G>A	uc001ylw.1	+	12	3049	c.2901G>A	c.(2899-2901)CCG>CCA	p.P967P	TECPR2_uc010awl.2_Silent_p.P967P|TECPR2_uc010txx.1_Silent_p.P130P	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	967	TECPR 1.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GCTTCTGTCCGGAAGGCGAGC	0.597000													3	29					0	0	0.004672	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625620	65625620	+	Silent	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr15:65625620C>T	uc002aos.2	-	6	1209	c.957G>A	c.(955-957)ACG>ACA	p.T319T		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	319	Extracellular (Potential).|Ig-like C2-type 3.									ovary(3)	3						GGCCCTGTGCCGTTCTCCTCA	0.637000													17	23					0	0	0.006122	0	0
PKD1	5310	broad.mit.edu	37	16	2155927	2155927	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:2155927C>G	uc002cos.1	-	20	8011	c.7802G>C	c.(7801-7803)CGG>CCG	p.R2601P	PKD1_uc002cot.1_Missense_Mutation_p.R2601P|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2601	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ATCGGCCTGCCGCAGCAGCCC	0.652000													5	36					0	0	0.001984	0	0
PRSS21	10942	broad.mit.edu	37	16	2868950	2868950	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:2868950G>T	uc002crt.2	+	4	636	c.530G>T	c.(529-531)GGG>GTG	p.G177V	PRSS21_uc002crs.2_Missense_Mutation_p.G175V|PRSS21_uc002crr.2_Missense_Mutation_p.G177V	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	177	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						ACTGGCTGGGGGTACATCAAA	0.562000													4	33					0.00909568	0.00976448	0.009096	1	0
RRN3	54700	broad.mit.edu	37	16	15159184	15159184	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:15159184T>C	uc002dde.2	-	16	1666	c.1598A>G	c.(1597-1599)AAT>AGT	p.N533S	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.N401S|RRN3_uc010uzq.1_Missense_Mutation_p.N503S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	533	Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						CATCTGGCGATTGTTCCTCTC	0.502000													12	51					0	0	0.013537	0	0
TMCO7	79613	broad.mit.edu	37	16	68909060	68909060	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:68909060G>T	uc002ewi.3	+	5	1010	c.998G>T	c.(997-999)GGA>GTA	p.G333V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	333						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GTGCCAGCGGGAGCAGCTGGT	0.473000													12	18					4.14922e-12	4.96546e-12	0.004007	1	0
KIAA0664	23277	broad.mit.edu	37	17	2601454	2601454	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:2601454A>G	uc002fuy.1	-	10	1669	c.1583T>C	c.(1582-1584)CTC>CCC	p.L528P	KIAA0664_uc002fux.1_Missense_Mutation_p.L460P	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	528							binding			breast(2)	2						CAGGATCTTGAGGGGCCGACT	0.647000													6	2					0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11772554	11772554	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:11772554C>T	uc002gne.2	+	51	10105	c.10037C>T	c.(10036-10038)TCC>TTC	p.S3346F	DNAH9_uc010coo.2_Missense_Mutation_p.S2640F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3346					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCACCATCTCCCTTGCCAAC	0.498000													24	56					0	0	0.004656	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096278	73096278	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:73096278G>T	uc002jmr.2	+	5	892	c.520G>T	c.(520-522)GTC>TTC	p.V174F	SLC16A5_uc002jms.1_Missense_Mutation_p.V174F|SLC16A5_uc002jmt.2_Missense_Mutation_p.V174F|SLC16A5_uc002jmu.2_Missense_Mutation_p.V174F|SLC16A5_uc010wrt.1_Missense_Mutation_p.V214F	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	174	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACCTTCCTTGTCTTCGGCGG	0.642000													4	39					0.00024832	0.000278882	0.009096	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:7810766C>T	uc002mht.2	-	4	453	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGCCTTCAGCCGGGTCAGCTC	0.567000													4	129					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9088433	9088433	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:9088433C>T	uc002mkp.2	-	1	3586	c.3382G>A	c.(3382-3384)GCT>ACT	p.A1128T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1128	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTCAGAGCTGAGCTTGTT	0.463000													4	52					0	0	0.009096	0	0
ZNF439	90594	broad.mit.edu	37	19	11978986	11978986	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:11978986T>C	uc002mss.2	+	3	1230	c.1102T>C	c.(1102-1104)TCA>CCA	p.S368P	ZNF439_uc002msr.2_Missense_Mutation_p.S232P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	368	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTCTGCCAAGTCATTTCAAAG	0.383000													3	49					0	0	0.009096	0	0
KPTN	11133	broad.mit.edu	37	19	47987312	47987312	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:47987312C>T	uc002pgy.2	-	1	210	c.106G>A	c.(106-108)GGC>AGC	p.G36S	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	36					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ccgcgcccgccggcgccgccT	0.587000											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0	0	0.004007	0	0
LILRB4	11006	broad.mit.edu	37	19	55176288	55176288	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:55176288G>A	uc002qgp.2	+	5	1056	c.694G>A	c.(694-696)GTC>ATC	p.V232I	LILRB4_uc002qgq.2_Missense_Mutation_p.V232I|LILRB4_uc010ers.1_Missense_Mutation_p.V145I|LILRB4_uc002qgr.2_Missense_Mutation_p.V273I|LILRB4_uc010ert.2_Missense_Mutation_p.V273I|LILRB4_uc010eru.2_Missense_Mutation_p.V261I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	232	Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		CACAAGGTCCGTCTCAACAGC	0.557000													4	20					0	0	0.000602	0	0
USP34	9736	broad.mit.edu	37	2	61454345	61454345	+	Silent	SNP	A	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:61454345A>C	uc002sbe.2	-	62	7474	c.7452T>G	c.(7450-7452)GTT>GTG	p.V2484V	USP34_uc002sbf.2_Silent_p.V634V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2484					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ATAACACTTCAACTTGAGGCT	0.279000													6	5					0	0	0.001168	0	0
C2orf3	6936	broad.mit.edu	37	2	75929399	75929399	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:75929399G>T	uc002sno.2	-	3	675	c.545C>A	c.(544-546)CCT>CAT	p.P182H	C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_Missense_Mutation_p.P13H|C2orf3_uc010fft.2_Translation_Start_Site|C2orf3_uc002snp.3_Missense_Mutation_p.P182H	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	182					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						ATGGTCATCAGGCTCACTCTC	0.418000													45	57					2.76378e-25	3.47856e-25	0.014410	1	0
NCAPH	23397	broad.mit.edu	37	2	97017653	97017653	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:97017653G>T	uc002svz.1	+	7	889	c.805G>T	c.(805-807)GAC>TAC	p.D269Y	NCAPH_uc010fhu.1_Missense_Mutation_p.D245Y|NCAPH_uc010fhv.1_Missense_Mutation_p.D258Y|NCAPH_uc010yum.1_Missense_Mutation_p.D245Y|NCAPH_uc010fhw.1_Missense_Mutation_p.D258Y|NCAPH_uc010yun.1_Missense_Mutation_p.D133Y|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	269					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CCACTGCCAGGACTACAGAAG	0.493000													14	31					4.14922e-12	4.96546e-12	0.004007	1	0
HNMT	3176	broad.mit.edu	37	2	138771361	138771361	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:138771361C>A	uc002tvc.2	+	7	688	c.540C>A	c.(538-540)GAC>GAA	p.D180E	HNMT_uc002tvf.2_Missense_Mutation_p.D180E	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	180					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTGGCTGGGACAAGCTGTGGA	0.388000													6	15					0.00116845	0.00127308	0.001168	1	0
SCN2A	6326	broad.mit.edu	37	2	166210795	166210795	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:166210795A>C	uc002udc.2	+	17	3303	c.3013A>C	c.(3013-3015)ATT>CTT	p.I1005L	SCN2A_uc002udd.2_Missense_Mutation_p.I1005L|SCN2A_uc002ude.2_Missense_Mutation_p.I1005L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1005	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TAATCTCCAGATTGCTGTGGG	0.383000													58	78					0	0	0.014410	0	0
PDE11A	50940	broad.mit.edu	37	2	178936278	178936278	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:178936278G>T	uc002ulq.2	-	1	1205	c.887C>A	c.(886-888)ACG>AAG	p.T296K	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	296	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATGTTGACCGTTTCTCCATG	0.537000									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				42	40					2.00842e-17	2.48499e-17	0.010771	1	0
MARS2	92935	broad.mit.edu	37	2	198571900	198571900	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:198571900C>T	uc002uuq.2	+	1	1814	c.1771C>T	c.(1771-1773)CAC>TAC	p.H591Y	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	591					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GGTGAAAGCCCACCGGACCTA	0.423000													7	83					0	0	0.001984	0	0
MKKS	8195	broad.mit.edu	37	20	10385928	10385928	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr20:10385928C>A	uc002wnt.1	-	6	2567	c.1680G>T	c.(1678-1680)TTG>TTT	p.L560F	MKKS_uc002wnu.1_Missense_Mutation_p.L560F|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	560					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						ATGAAAGATCCAAAATCAAAT	0.393000									Bardet-Biedl_syndrome				9	22					3.09899e-07	3.64881e-07	0.004482	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr20:29628245G>A	uc010ztl.1	+	3	189	c.157G>A	c.(157-159)GCC>ACC	p.A53T	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						GGCTTTGTTGGCCTCAAATAG	0.353000													5	144					0	0	0.004482	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427622	197427622	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr3:197427622C>G	uc003fyc.2	-	7	1306	c.1123G>C	c.(1123-1125)GGT>CGT	p.G375R	KIAA0226_uc003fyd.3_Missense_Mutation_p.G315R|KIAA0226_uc003fye.1_Missense_Mutation_p.G82R|KIAA0226_uc003fyf.2_Missense_Mutation_p.G208R|KIAA0226_uc003fyg.2_Missense_Mutation_p.G368R	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	375	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTCCCCACCTCCTTCCTGG	0.577000													9	22					0	0	0.004482	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798373	140798373	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:140798373C>G	uc003lkn.1	+	1	1092	c.947C>G	c.(946-948)ACG>AGG	p.T316R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.T316R|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	316	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGATATACGATAAACATA	0.408000													4	19					0	0	0.009096	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006787	149006787	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:149006787A>G	uc003lra.1	+	11	1677	c.1613A>G	c.(1612-1614)AAC>AGC	p.N538S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	538	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						ATCCTTCAAAACAAGGACACC	0.597000													32	59					0	0	0.006999	0	0
PRSS16	10279	broad.mit.edu	37	6	27222771	27222771	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr6:27222771C>T	uc003nja.2	+	11	1349	c.1337C>T	c.(1336-1338)ACA>ATA	p.T446I	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.T189I|PRSS16_uc003njd.2_RNA	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	446					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						CCAGGGGACACAGACCCCTGG	0.547000													70	84					0	0	0.014410	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779708	31779708	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr6:31779708G>A	uc003nxh.2	-	2	225	c.42C>T	c.(40-42)GGC>GGT	p.G14G	HSPA1L_uc010jte.2_Silent_p.G14G	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	14					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AGTAGGTGGTGCCCAGGTCGA	0.557000													13	18					0	0	0.003163	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142235	71142235	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr7:71142235G>A	uc003tvy.2	+	9	1444	c.1444G>A	c.(1444-1446)GGG>AGG	p.G482R	WBSCR17_uc003tvz.2_Missense_Mutation_p.G181R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	482	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTGGACCAGGGGCCGCTGGA	0.532000													13	406					0	0	0.003163	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029857	103029857	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr7:103029857G>A	uc003vbz.2	-	13	1562	c.1326C>T	c.(1324-1326)GCC>GCT	p.A442A	SLC26A5_uc003vbt.1_Silent_p.A442A|SLC26A5_uc003vbu.1_Silent_p.A442A|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Intron|SLC26A5_uc003vby.2_Intron|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	442	Helical; Name=11; (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CAATCACAATGGCCGACAGCA	0.498000													27	44					0	0	0.006320	0	0
ZNF707	286075	broad.mit.edu	37	8	144776267	144776267	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr8:144776267G>A	uc003yze.3	+	7	998	c.683G>A	c.(682-684)CGC>CAC	p.R228H	ZNF707_uc010mfh.2_Missense_Mutation_p.R228H|ZNF707_uc010mfi.2_Missense_Mutation_p.R228H|ZNF707_uc003yzf.3_Missense_Mutation_p.R228H|ZNF707_uc003yzh.3_Missense_Mutation_p.R155H|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667000													3	10					0	0	0.004672	0	0
MAPK15	225689	broad.mit.edu	37	8	144801161	144801161	+	Splice_Site	SNP	A	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr8:144801161A>T	uc003yzj.2	+	6	459	c.418_splice	c.e6-2	p.P140_splice		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15						protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTCTCTGCAGCCGTCCAAT	0.711000													6	5					0	0	0.001984	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585458	4585458	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:4585458T>C	uc003zij.1	+	12	1711	c.1475T>C	c.(1474-1476)CTT>CCT	p.L492P	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	492					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCCACAATCCTTGACAACGAA	0.463000													26	28					0	0	0.003954	0	0
APTX	54840	broad.mit.edu	37	9	32988092	32988092	+	Nonsense_Mutation	SNP	T	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:32988092T>A	uc003zrm.2	-	2	366	c.169A>T	c.(169-171)AAG>TAG	p.K57*	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_5'UTR|APTX_uc003zrl.2_5'UTR|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Nonsense_Mutation_p.K57*|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Nonsense_Mutation_p.K57*|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Nonsense_Mutation_p.K71*|APTX_uc003zrw.2_Nonsense_Mutation_p.K57*|APTX_uc003zrx.2_Nonsense_Mutation_p.K57*|APTX_uc003zry.2_Nonsense_Mutation_p.K57*|APTX_uc003zrz.2_5'UTR|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	71	Interactions with ADPRT and NCL.|FHA-like.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TGCTTTACCTTGACATATCCC	0.388000								Direct_reversal_of_damage|Editing_and_processing_nucleases					23	39					0	0	0.002780	0	0
PTCH1	5727	broad.mit.edu	37	9	98268787	98268787	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:98268787C>T	uc004avk.3	-	2	484	c.296G>A	c.(295-297)GGC>GAC	p.G99D	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Missense_Mutation_p.G33D|PTCH1_uc004avm.3_Missense_Mutation_p.G98D|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Missense_Mutation_p.G33D|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	99	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAAGAACTTGCCGCAGTTTTT	0.537000									Basal_Cell_Nevus_syndrome				13	14					0	0	0.002450	0	0
GYG2	8908	broad.mit.edu	37	X	2772026	2772026	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:2772026T>A	uc004cqs.1	+	5	530	c.248T>A	c.(247-249)ATC>AAC	p.I83N	GYG2_uc004cqt.1_Missense_Mutation_p.I52N|GYG2_uc004cqu.1_Missense_Mutation_p.I52N|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.I43N|GYG2_uc004cqx.1_Missense_Mutation_p.I52N|GYG2_uc010ndc.1_5'Flank	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	83					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGGGTCATCCTCTCGAAG	0.507000													36	3					0	0	0.006999	0	0
PHKA1	5255	broad.mit.edu	37	X	71829514	71829514	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:71829514C>T	uc004eax.3	-	23	2867	c.2566G>A	c.(2566-2568)GTA>ATA	p.V856I	PHKA1_uc004eay.3_Missense_Mutation_p.V856I|PHKA1_uc011mqi.1_Missense_Mutation_p.V797I	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	856					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GGAAGTCCTACTGTCAAATGT	0.453000													33	4					0	0	0.009718	0	0
ESPNP	284729	broad.mit.edu	37	1	17023348	17023348	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:17023348T>C	uc001azn.1	-	9	1600	c.1486A>G	c.(1486-1488)AAG>GAG	p.K496E		NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						TTCAGGCTCTTGCCTGCCTTA	0.617000													5	30					0	0	0.000602	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447533	29447533	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:29447533G>A	uc001brn.1	-	2	868	c.808C>T	c.(808-810)CTT>TTT	p.L270F		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	270						integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GGGGCCCCAAGGAGGAGCTCC	0.622000													11	15					0	0	0.013537	0	0
KIAA0467	23334	broad.mit.edu	37	1	43913762	43913762	+	Silent	SNP	C	T	T	rs138585463	byFrequency	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:43913762C>T	uc001cjk.1	+	54	7341	c.6879C>T	c.(6877-6879)TTC>TTT	p.F2293F	KIAA0467_uc001cjl.1_Silent_p.F281F	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3192						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACAGTTCTTCGTGGTGCTCA	0.637000													11	16					0	0	0.013537	0	0
ABCA4	24	broad.mit.edu	37	1	94548962	94548962	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:94548962G>A	uc001dqh.2	-	7	908	c.804C>T	c.(802-804)ATC>ATT	p.I268I	ABCA4_uc010otn.1_Silent_p.I268I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	268	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTCAGATTGATACCTTGAG	0.323000													85	104					0	0	0.014410	0	0
PTPN22	26191	broad.mit.edu	37	1	114402065	114402065	+	Silent	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:114402065A>G	uc001eds.2	-	2	235	c.105T>C	c.(103-105)TCT>TCC	p.S35S	uc001edv.1_Intron|PTPN22_uc009wgq.2_Silent_p.S35S|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Silent_p.S35S|PTPN22_uc009wgr.2_Silent_p.S35S|PTPN22_uc009wgs.2_Silent_p.S35S|PTPN22_uc001edu.2_Silent_p.S35S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	35	Tyrosine-protein phosphatase.			S->E: Loss of phosphorylation by PKC/PRKCD.	negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTTGGTAGATTGCCTTT	0.373000													40	47					0	0	0.006999	0	0
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	A	A	rs141949470	by1000genomes	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:146494538G>A	uc001epd.2	-	4	535	c.461C>T	c.(460-462)GCG>GTG	p.A154V		NR_024442				SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA;												0						TGGCAGGGCCGCTCTCCAGAA	0.572000													5	22					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	A	A	rs146128865	byFrequency	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:152284263G>A	uc001ezu.1	-	3	3135	c.3099C>T	c.(3097-3099)CAC>CAT	p.H1033H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1033	Filaggrin 6.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis				8	356					0	0	0.004482	0	0
CABC1	56997	broad.mit.edu	37	1	227174187	227174187	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:227174187A>G	uc001hqm.1	+	20	5112	c.1693A>G	c.(1693-1695)ATC>GTC	p.I565V	CABC1_uc001hqn.1_Missense_Mutation_p.I565V|CABC1_uc009xeq.1_Missense_Mutation_p.I513V|CABC1_uc010pvq.1_Missense_Mutation_p.I286V|CABC1_uc010pvr.1_Missense_Mutation_p.I239V|CABC1_uc001hqo.1_Missense_Mutation_p.I286V|CABC1_uc009xer.1_Missense_Mutation_p.I81V	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	565					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				TGCCATCCTCATCCTGGGGGA	0.592000													38	45					0	0	0.006999	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134020	233134020	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:233134020G>A	uc001hvl.2	-	32	6003	c.5768C>T	c.(5767-5769)TCC>TTC	p.S1923F	PCNXL2_uc001hvk.1_Missense_Mutation_p.S575F|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1923						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCTTCACAGGATGACACCCC	0.592000													6	8					0	0	0.004482	0	0
ZMYND11	10771	broad.mit.edu	37	10	287963	287963	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr10:287963A>G	uc010pzt.1	+	10	1262	c.834A>G	c.(832-834)ATA>ATG	p.I278M	ZMYND11_uc001ifk.2_Missense_Mutation_p.I277M|ZMYND11_uc010pzu.1_Missense_Mutation_p.I278M|ZMYND11_uc010pzv.1_Missense_Mutation_p.I223M|ZMYND11_uc010pzw.1_Missense_Mutation_p.I193M|ZMYND11_uc001ifm.2_Missense_Mutation_p.I224M|ZMYND11_uc010pzx.1_Missense_Mutation_p.I278M|ZMYND11_uc001ifn.2_Missense_Mutation_p.I224M|ZMYND11_uc009xhg.2_Missense_Mutation_p.I261M|ZMYND11_uc009xhh.2_Missense_Mutation_p.I152M|ZMYND11_uc010pzy.1_Missense_Mutation_p.I130M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	238					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATTTCCAGATACCTAATCATG	0.328000													16	26					0	0	0.003163	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357165	20357165	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr10:20357165G>A	uc001iqg.1	+	4	1175	c.538G>A	c.(538-540)GGG>AGG	p.G180R	PLXDC2_uc001iqh.1_Missense_Mutation_p.G131R	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	180	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TGTGGCAACCGGGGGTAAGTG	0.358000													4	23					0	0	0.009096	0	0
PPRC1	23082	broad.mit.edu	37	10	103900396	103900396	+	Missense_Mutation	SNP	G	A	A	rs17847386		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr10:103900396G>A	uc001kum.2	+	5	2170	c.2131G>A	c.(2131-2133)GTG>ATG	p.V711M	PPRC1_uc001kun.2_Missense_Mutation_p.V591M|PPRC1_uc010qqj.1_Missense_Mutation_p.V711M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGCTCCTCGTGGAGTCAGA	0.532000													5	53					0	0	0.000602	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743059	26743059	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr11:26743059A>G	uc001mra.2	-	1	516	c.203T>C	c.(202-204)CTG>CCG	p.L68P	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.L68P	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	68	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						AGGGGTCCCCAGGACCGTGAC	0.522000													22	25					0	0	0.010504	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177469	57177469	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr11:57177469T>G	uc001nkg.2	-	12	1596	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.I396L|SLC43A3_uc010rjr.1_Missense_Mutation_p.I409L|SLC43A3_uc009yme.2_Missense_Mutation_p.I396L|SLC43A3_uc001nki.2_Missense_Mutation_p.I396L	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	396	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1						ACTTGCAGGATGAAGGTGAGG	0.632000													7	12					0	0	0.001984	0	0
USP28	57646	broad.mit.edu	37	11	113705056	113705056	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr11:113705056G>C	uc001poh.2	-	6	569	c.536C>G	c.(535-537)TCT>TGT	p.S179C	USP28_uc010rwy.1_Missense_Mutation_p.S54C|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.S179C|USP28_uc010rwz.1_Missense_Mutation_p.S179C	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	179					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTGAAAGAGAGACTGAAATAA	0.308000													17	14					0	0	0.004990	0	0
SIDT2	51092	broad.mit.edu	37	11	117063308	117063308	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr11:117063308G>A	uc001pqh.1	+	21	2041	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	SIDT2_uc010rxe.1_Missense_Mutation_p.R667H|SIDT2_uc001pqg.2_Missense_Mutation_p.R688H|SIDT2_uc001pqi.1_Missense_Mutation_p.R664H|SIDT2_uc001pqj.1_5'UTR	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	667	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATCTTCCGCCGCATCCTCCAC	0.632000													4	58					0	0	0.000602	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969112	118969112	+	Splice_Site	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr11:118969112C>T	uc001pvi.2	-	5	1148	c.728_splice	c.e5+1	p.W243_splice	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Splice_Site_p.W136_splice|DPAGT1_uc009zaq.2_Splice_Site|DPAGT1_uc001pvk.2_Splice_Site_p.W71_splice|DPAGT1_uc010ryz.1_Splice_Site_p.W243_splice|DPAGT1_uc001pvm.1_Nonsense_Mutation_p.W136*|DPAGT1_uc010rza.1_Splice_Site_p.W136_splice	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate						dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGCCTACTTACCAGTTGTGGT	0.463000													36	42					0	0	0.011902	0	0
TFCP2	7024	broad.mit.edu	37	12	51495806	51495806	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr12:51495806C>T	uc001rxw.2	-	11	1522	c.1063G>A	c.(1063-1065)GCA>ACA	p.A355T	TFCP2_uc001rxv.1_Missense_Mutation_p.A355T|TFCP2_uc009zlx.1_Missense_Mutation_p.A304T|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.A257T	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	355	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AATAAATCTGCCCCTGGAATA	0.343000													13	43					0	0	0.002450	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626598	56626598	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr12:56626598A>G	uc010sqj.1	+	5	670	c.413A>G	c.(412-414)GAC>GGC	p.D138G	SLC39A5_uc010sqi.1_Missense_Mutation_p.D29G|SLC39A5_uc010sqk.1_Missense_Mutation_p.D138G	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	138	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCGGGCCTGGACCTCCTTCAC	0.612000													26	44					0	0	0.008361	0	0
GLI1	2735	broad.mit.edu	37	12	57864354	57864354	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr12:57864354C>T	uc001snx.2	+	12	1909	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	GLI1_uc009zpq.2_Missense_Mutation_p.R483W	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	611					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCTGGATCGGATAGGTGG	0.617000													19	33					0	0	0.008871	0	0
MDGA2	161357	broad.mit.edu	37	14	47351354	47351354	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr14:47351354G>T	uc001wwj.3	-	11	2298	c.2102C>A	c.(2101-2103)ACA>AAA	p.T701K	MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.T472K|MDGA2_uc010ani.2_Missense_Mutation_p.T261K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	701					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAAGTTATATGTAATTAATTC	0.368000													7	18					8.12818e-05	9.14421e-05	0.001984	1	0
KCNK13	56659	broad.mit.edu	37	14	90528673	90528673	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr14:90528673G>A	uc001xye.1	+	1	566	c.124G>A	c.(124-126)GAG>AAG	p.E42K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	42						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CTCCGCGCTGGAGCTGGCGCA	0.721000													4	3					0	0	0.009096	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483550	102483550	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr14:102483550G>T	uc001yks.2	+	39	8138	c.7974G>T	c.(7972-7974)TGG>TGT	p.W2658C	DYNC1H1_uc001ykt.1_Missense_Mutation_p.W149C	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2658	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TTGGAAAGTGGCTGGTGTTGT	0.458000													4	67					0.000602214	0.000656961	0.000602	1	0
IGDCC3	9543	broad.mit.edu	37	15	65625620	65625620	+	Silent	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr15:65625620C>T	uc002aos.2	-	6	1209	c.957G>A	c.(955-957)ACG>ACA	p.T319T		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	319	Extracellular (Potential).|Ig-like C2-type 3.									ovary(3)	3						GGCCCTGTGCCGTTCTCCTCA	0.637000													17	23					0	0	0.006122	0	0
PRSS21	10942	broad.mit.edu	37	16	2868950	2868950	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr16:2868950G>T	uc002crt.2	+	4	636	c.530G>T	c.(529-531)GGG>GTG	p.G177V	PRSS21_uc002crs.2_Missense_Mutation_p.G175V|PRSS21_uc002crr.2_Missense_Mutation_p.G177V	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	177	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						ACTGGCTGGGGGTACATCAAA	0.562000													4	33					0.00909568	0.00963072	0.009096	1	0
RRN3	54700	broad.mit.edu	37	16	15159184	15159184	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr16:15159184T>C	uc002dde.2	-	16	1666	c.1598A>G	c.(1597-1599)AAT>AGT	p.N533S	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.N401S|RRN3_uc010uzq.1_Missense_Mutation_p.N503S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	533	Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						CATCTGGCGATTGTTCCTCTC	0.502000													12	51					0	0	0.013537	0	0
TMCO7	79613	broad.mit.edu	37	16	68909060	68909060	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr16:68909060G>T	uc002ewi.3	+	5	1010	c.998G>T	c.(997-999)GGA>GTA	p.G333V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	333						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GTGCCAGCGGGAGCAGCTGGT	0.473000													12	18					4.14922e-12	4.89744e-12	0.004007	1	0
DNAH9	1770	broad.mit.edu	37	17	11772554	11772554	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr17:11772554C>T	uc002gne.2	+	51	10105	c.10037C>T	c.(10036-10038)TCC>TTC	p.S3346F	DNAH9_uc010coo.2_Missense_Mutation_p.S2640F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3346					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCACCATCTCCCTTGCCAAC	0.498000													24	56					0	0	0.004656	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096278	73096278	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr17:73096278G>T	uc002jmr.2	+	5	892	c.520G>T	c.(520-522)GTC>TTC	p.V174F	SLC16A5_uc002jms.1_Missense_Mutation_p.V174F|SLC16A5_uc002jmt.2_Missense_Mutation_p.V174F|SLC16A5_uc002jmu.2_Missense_Mutation_p.V174F|SLC16A5_uc010wrt.1_Missense_Mutation_p.V214F	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	174	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACCTTCCTTGTCTTCGGCGG	0.642000													4	39					0.00024832	0.000275062	0.009096	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:7810766C>T	uc002mht.2	-	4	453	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGCCTTCAGCCGGGTCAGCTC	0.567000													4	129					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9088433	9088433	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:9088433C>T	uc002mkp.2	-	1	3586	c.3382G>A	c.(3382-3384)GCT>ACT	p.A1128T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1128	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTCAGAGCTGAGCTTGTT	0.463000													4	52					0	0	0.009096	0	0
ZNF439	90594	broad.mit.edu	37	19	11978986	11978986	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:11978986T>C	uc002mss.2	+	3	1230	c.1102T>C	c.(1102-1104)TCA>CCA	p.S368P	ZNF439_uc002msr.2_Missense_Mutation_p.S232P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	368	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTCTGCCAAGTCATTTCAAAG	0.383000													3	49					0	0	0.009096	0	0
KPTN	11133	broad.mit.edu	37	19	47987312	47987312	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:47987312C>T	uc002pgy.2	-	1	210	c.106G>A	c.(106-108)GGC>AGC	p.G36S	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	36					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ccgcgcccgccggcgccgccT	0.587000											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0	0	0.004007	0	0
LILRB4	11006	broad.mit.edu	37	19	55176288	55176288	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:55176288G>A	uc002qgp.2	+	5	1056	c.694G>A	c.(694-696)GTC>ATC	p.V232I	LILRB4_uc002qgq.2_Missense_Mutation_p.V232I|LILRB4_uc010ers.1_Missense_Mutation_p.V145I|LILRB4_uc002qgr.2_Missense_Mutation_p.V273I|LILRB4_uc010ert.2_Missense_Mutation_p.V273I|LILRB4_uc010eru.2_Missense_Mutation_p.V261I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	232	Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		CACAAGGTCCGTCTCAACAGC	0.557000													4	20					0	0	0.000602	0	0
USP34	9736	broad.mit.edu	37	2	61454345	61454345	+	Silent	SNP	A	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:61454345A>C	uc002sbe.2	-	62	7474	c.7452T>G	c.(7450-7452)GTT>GTG	p.V2484V	USP34_uc002sbf.2_Silent_p.V634V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2484					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ATAACACTTCAACTTGAGGCT	0.279000													6	5					0	0	0.001168	0	0
C2orf3	6936	broad.mit.edu	37	2	75929399	75929399	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:75929399G>T	uc002sno.2	-	3	675	c.545C>A	c.(544-546)CCT>CAT	p.P182H	C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_Missense_Mutation_p.P13H|C2orf3_uc010fft.2_Translation_Start_Site|C2orf3_uc002snp.3_Missense_Mutation_p.P182H	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	182					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						ATGGTCATCAGGCTCACTCTC	0.418000													45	57					2.76378e-25	3.4309e-25	0.014410	1	0
NCAPH	23397	broad.mit.edu	37	2	97017653	97017653	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:97017653G>T	uc002svz.1	+	7	889	c.805G>T	c.(805-807)GAC>TAC	p.D269Y	NCAPH_uc010fhu.1_Missense_Mutation_p.D245Y|NCAPH_uc010fhv.1_Missense_Mutation_p.D258Y|NCAPH_uc010yum.1_Missense_Mutation_p.D245Y|NCAPH_uc010fhw.1_Missense_Mutation_p.D258Y|NCAPH_uc010yun.1_Missense_Mutation_p.D133Y|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	269					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CCACTGCCAGGACTACAGAAG	0.493000													14	31					4.14922e-12	4.89744e-12	0.004007	1	0
HNMT	3176	broad.mit.edu	37	2	138771361	138771361	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:138771361C>A	uc002tvc.2	+	7	688	c.540C>A	c.(538-540)GAC>GAA	p.D180E	HNMT_uc002tvf.2_Missense_Mutation_p.D180E	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	180					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTGGCTGGGACAAGCTGTGGA	0.388000													6	15					0.00116845	0.00125564	0.001168	1	0
SCN2A	6326	broad.mit.edu	37	2	166210795	166210795	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:166210795A>C	uc002udc.2	+	17	3303	c.3013A>C	c.(3013-3015)ATT>CTT	p.I1005L	SCN2A_uc002udd.2_Missense_Mutation_p.I1005L|SCN2A_uc002ude.2_Missense_Mutation_p.I1005L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1005	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TAATCTCCAGATTGCTGTGGG	0.383000													58	78					0	0	0.014410	0	0
LASS6	253782	broad.mit.edu	37	2	169571584	169571584	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:169571584C>T	uc002ueb.1	+	7	807	c.683C>T	c.(682-684)GCC>GTC	p.A228V	LASS6_uc002uec.1_Missense_Mutation_p.A228V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	228	Cytoplasmic (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						AACAATATGGCCCGAGTAGGA	0.363000													4	69					0	0	0.009096	0	0
PDE11A	50940	broad.mit.edu	37	2	178936278	178936278	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:178936278G>T	uc002ulq.2	-	1	1205	c.887C>A	c.(886-888)ACG>AAG	p.T296K	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	296	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATGTTGACCGTTTCTCCATG	0.537000									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				42	40					2.00842e-17	2.45095e-17	0.010771	1	0
MARS2	92935	broad.mit.edu	37	2	198571900	198571900	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:198571900C>T	uc002uuq.2	+	1	1814	c.1771C>T	c.(1771-1773)CAC>TAC	p.H591Y	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	591					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GGTGAAAGCCCACCGGACCTA	0.423000													7	83					0	0	0.001984	0	0
MKKS	8195	broad.mit.edu	37	20	10385928	10385928	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr20:10385928C>A	uc002wnt.1	-	6	2567	c.1680G>T	c.(1678-1680)TTG>TTT	p.L560F	MKKS_uc002wnu.1_Missense_Mutation_p.L560F|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	560					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						ATGAAAGATCCAAAATCAAAT	0.393000									Bardet-Biedl_syndrome				9	22					3.09899e-07	3.59882e-07	0.004482	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr20:29625877G>A	uc010ztl.1	+	2	63	c.31G>A	c.(31-33)GCC>ACC	p.A11T	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						GTACAGAATCGCCCTGAAATC	0.353000													9	69					0	0	0.004482	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427622	197427622	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr3:197427622C>G	uc003fyc.2	-	7	1306	c.1123G>C	c.(1123-1125)GGT>CGT	p.G375R	KIAA0226_uc003fyd.3_Missense_Mutation_p.G315R|KIAA0226_uc003fye.1_Missense_Mutation_p.G82R|KIAA0226_uc003fyf.2_Missense_Mutation_p.G208R|KIAA0226_uc003fyg.2_Missense_Mutation_p.G368R	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	375	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTCCCCACCTCCTTCCTGG	0.577000													9	22					0	0	0.004482	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798373	140798373	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr5:140798373C>G	uc003lkn.1	+	1	1092	c.947C>G	c.(946-948)ACG>AGG	p.T316R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.T316R|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	316	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGATATACGATAAACATA	0.408000													4	19					0	0	0.009096	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006787	149006787	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr5:149006787A>G	uc003lra.1	+	11	1677	c.1613A>G	c.(1612-1614)AAC>AGC	p.N538S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	538	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						ATCCTTCAAAACAAGGACACC	0.597000													32	59					0	0	0.006999	0	0
PRSS16	10279	broad.mit.edu	37	6	27222771	27222771	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr6:27222771C>T	uc003nja.2	+	11	1349	c.1337C>T	c.(1336-1338)ACA>ATA	p.T446I	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.T189I|PRSS16_uc003njd.2_RNA	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	446					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						CCAGGGGACACAGACCCCTGG	0.547000													70	84					0	0	0.014410	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779708	31779708	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr6:31779708G>A	uc003nxh.2	-	2	225	c.42C>T	c.(40-42)GGC>GGT	p.G14G	HSPA1L_uc010jte.2_Silent_p.G14G	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	14					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AGTAGGTGGTGCCCAGGTCGA	0.557000													13	18					0	0	0.003163	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142235	71142235	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr7:71142235G>A	uc003tvy.2	+	9	1444	c.1444G>A	c.(1444-1446)GGG>AGG	p.G482R	WBSCR17_uc003tvz.2_Missense_Mutation_p.G181R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	482	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTGGACCAGGGGCCGCTGGA	0.532000													13	406					0	0	0.003163	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029857	103029857	+	Silent	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr7:103029857G>A	uc003vbz.2	-	13	1562	c.1326C>T	c.(1324-1326)GCC>GCT	p.A442A	SLC26A5_uc003vbt.1_Silent_p.A442A|SLC26A5_uc003vbu.1_Silent_p.A442A|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Intron|SLC26A5_uc003vby.2_Intron|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	442	Helical; Name=11; (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CAATCACAATGGCCGACAGCA	0.498000													27	44					0	0	0.006320	0	0
ZNF707	286075	broad.mit.edu	37	8	144776267	144776267	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr8:144776267G>A	uc003yze.3	+	7	998	c.683G>A	c.(682-684)CGC>CAC	p.R228H	ZNF707_uc010mfh.2_Missense_Mutation_p.R228H|ZNF707_uc010mfi.2_Missense_Mutation_p.R228H|ZNF707_uc003yzf.3_Missense_Mutation_p.R228H|ZNF707_uc003yzh.3_Missense_Mutation_p.R155H|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667000													3	10					0	0	0.004672	0	0
MAPK15	225689	broad.mit.edu	37	8	144801161	144801161	+	Splice_Site	SNP	A	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr8:144801161A>T	uc003yzj.2	+	6	459	c.418_splice	c.e6-2	p.P140_splice		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15						protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTCTCTGCAGCCGTCCAAT	0.711000													6	5					0	0	0.001984	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585458	4585458	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr9:4585458T>C	uc003zij.1	+	12	1711	c.1475T>C	c.(1474-1476)CTT>CCT	p.L492P	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	492					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCCACAATCCTTGACAACGAA	0.463000													26	28					0	0	0.003954	0	0
APTX	54840	broad.mit.edu	37	9	32988092	32988092	+	Nonsense_Mutation	SNP	T	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr9:32988092T>A	uc003zrm.2	-	2	366	c.169A>T	c.(169-171)AAG>TAG	p.K57*	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_5'UTR|APTX_uc003zrl.2_5'UTR|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Nonsense_Mutation_p.K57*|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Nonsense_Mutation_p.K57*|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Nonsense_Mutation_p.K71*|APTX_uc003zrw.2_Nonsense_Mutation_p.K57*|APTX_uc003zrx.2_Nonsense_Mutation_p.K57*|APTX_uc003zry.2_Nonsense_Mutation_p.K57*|APTX_uc003zrz.2_5'UTR|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	71	Interactions with ADPRT and NCL.|FHA-like.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TGCTTTACCTTGACATATCCC	0.388000								Direct_reversal_of_damage|Editing_and_processing_nucleases					23	39					0	0	0.002780	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962715	41962715	+	RNA	SNP	A	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr9:41962715A>T	uc004aca.3	-	3		c.794T>A				NR_003670				Homo sapiens cDNA FLJ76381 complete cds.												0						CCAGAATTAGATCTTTGAAGT	0.318000													3	20					0	0	0.001984	0	0
PTCH1	5727	broad.mit.edu	37	9	98268787	98268787	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr9:98268787C>T	uc004avk.3	-	2	484	c.296G>A	c.(295-297)GGC>GAC	p.G99D	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Missense_Mutation_p.G33D|PTCH1_uc004avm.3_Missense_Mutation_p.G98D|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Missense_Mutation_p.G33D|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	99	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAAGAACTTGCCGCAGTTTTT	0.537000									Basal_Cell_Nevus_syndrome				13	14					0	0	0.002450	0	0
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	G	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr9:141071110A>G	uc004com.2	+	4	774	c.513A>G	c.(511-513)CCA>CCG	p.P171P	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TGCGCTTCCCAGGCCAGCTGA	0.597000													6	44					0	0	0.001168	0	0
GYG2	8908	broad.mit.edu	37	X	2772026	2772026	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chrX:2772026T>A	uc004cqs.1	+	5	530	c.248T>A	c.(247-249)ATC>AAC	p.I83N	GYG2_uc004cqt.1_Missense_Mutation_p.I52N|GYG2_uc004cqu.1_Missense_Mutation_p.I52N|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.I43N|GYG2_uc004cqx.1_Missense_Mutation_p.I52N|GYG2_uc010ndc.1_5'Flank	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	83					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGGGTCATCCTCTCGAAG	0.507000													36	3					0	0	0.006999	0	0
PHKA1	5255	broad.mit.edu	37	X	71829514	71829514	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chrX:71829514C>T	uc004eax.3	-	23	2867	c.2566G>A	c.(2566-2568)GTA>ATA	p.V856I	PHKA1_uc004eay.3_Missense_Mutation_p.V856I|PHKA1_uc011mqi.1_Missense_Mutation_p.V797I	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	856					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GGAAGTCCTACTGTCAAATGT	0.453000													33	4					0	0	0.009718	0	0
CRNN	49860	broad.mit.edu	37	1	152382377	152382391	+	In_Frame_Del	DEL	TCAGGGTTGCTCACT	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:152382377_152382391delTCAGGGTTGCTCACT	uc001ezx.2	-	3	1241_1255	c.1167_1181delAGTGAGCAACCCTGA	c.(1165-1182)CAAGTGAGCAACCCTGAG>CAG	p.VSNPE390del		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	390_394					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGCCTCAGGGTTGCTCACTTGCATCCATC	0.595													23	52	---	---	---	---					
SEC23A	10484	broad.mit.edu	37	14	39514526	39514526	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:39514526delA	uc001wup.1	-	16	1963	c.1740delT	c.(1738-1740)TTTfs	p.F580fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.F466fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.F551fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	580					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AATGAAACATAAACTGTAAGA	0.289													8	18	---	---	---	---					
NANOS3	342977	broad.mit.edu	37	19	13988558	13988559	+	In_Frame_Ins	INS	-	GAG	GAG	rs148122339	by1000genomes	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:13988558_13988559insGAG	uc002mxj.3	+	1	609_610	c.496_497insGAG	c.(496-498)CGA>CGAGGA	p.171_172insG		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	152_153					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCCACCGCCGAGGAGGAGGA	0.644													4	4	---	---	---	---					
ZNF226	7769	broad.mit.edu	37	19	44680650	44680650	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:44680650delT	uc002oyp.2	+	6	1379	c.1235delT	c.(1234-1236)GTTfs	p.V412fs	ZNF226_uc002oyq.2_Frame_Shift_Del_p.V295fs|ZNF226_uc002oyr.2_Frame_Shift_Del_p.V295fs|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Frame_Shift_Del_p.V412fs|ZNF226_uc002oyt.2_Frame_Shift_Del_p.V412fs	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	412	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CATCAAAGAGTTCATACAGGA	0.433													19	27	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51171508	51171508	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:51171508delC	uc002psx.1	-	22	3728	c.3709delG	c.(3709-3711)GTGfs	p.V1237fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.V621fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1237					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCGCCCCCACCAGGGCGGCC	0.562													2	4	---	---	---	---					
NCAPH	23397	broad.mit.edu	37	2	97017659	97017669	+	Frame_Shift_Del	DEL	AGAAGTGAACT	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:97017659_97017669delAGAAGTGAACT	uc002svz.1	+	7	895_905	c.811_821delAGAAGTGAACT	c.(811-822)AGAAGTGAACTGfs	p.R271fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.R247fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.R260fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.R247fs|NCAPH_uc010fhw.1_Frame_Shift_Del_p.R260fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.R135fs|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	271_274					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CCAGGACTACAGAAGTGAACTGCTGTTTCCC	0.479													17	39	---	---	---	---					
LOC96610	96610	broad.mit.edu	37	22	23214060	23214063	+	RNA	DEL	GGCA	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr22:23214060_23214063delGGCA	uc011aim.1	+	326		c.14137_14140delGGCA								Parts of antibodies, mostly variable regions.												0						TAAGAGTGATGGCAGCCACAGCAA	0.569													14	130	---	---	---	---					
UGT2A3	79799	broad.mit.edu	37	4	69817176	69817177	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr4:69817176_69817177insAA	uc003hef.2	-	1	333_334	c.302_303insTT	c.(301-303)TTAfs	p.L101fs	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	101	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GCCAGGTTGATAAGCCTGGCAA	0.351													9	38	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14387672	14387672	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:14387672delT	uc003jff.2	+	22	3702	c.3696delT	c.(3694-3696)TCTfs	p.S1232fs	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Frame_Shift_Del_p.S1183fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.S881fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1232					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GAGATTTCTCTCTGCGGATGG	0.433													38	58	---	---	---	---					
SYP	6855	broad.mit.edu	37	X	49050637	49050638	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:49050637_49050638delTG	uc004dmz.1	-	4	424_425	c.408_409delCA	c.(406-411)AACAAAfs	p.N136fs	SYP_uc011mmz.1_Frame_Shift_Del_p.N18fs|SYP_uc004dna.1_Frame_Shift_Del_p.N130fs	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	136_137	MARVEL.|Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				ATGGGCCCTTTGTTATTCTCTC	0.564													20	7	---	---	---	---					
CRNN	49860	broad.mit.edu	37	1	152382377	152382391	+	In_Frame_Del	DEL	TCAGGGTTGCTCACT	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr1:152382377_152382391delTCAGGGTTGCTCACT	uc001ezx.2	-	3	1241_1255	c.1167_1181delAGTGAGCAACCCTGA	c.(1165-1182)CAAGTGAGCAACCCTGAG>CAG	p.VSNPE390del		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	390_394					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGCCTCAGGGTTGCTCACTTGCATCCATC	0.595													23	52	---	---	---	---					
SEC23A	10484	broad.mit.edu	37	14	39514526	39514526	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr14:39514526delA	uc001wup.1	-	16	1963	c.1740delT	c.(1738-1740)TTTfs	p.F580fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.F466fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.F551fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	580					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AATGAAACATAAACTGTAAGA	0.289													8	18	---	---	---	---					
ZNF226	7769	broad.mit.edu	37	19	44680650	44680650	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:44680650delT	uc002oyp.2	+	6	1379	c.1235delT	c.(1234-1236)GTTfs	p.V412fs	ZNF226_uc002oyq.2_Frame_Shift_Del_p.V295fs|ZNF226_uc002oyr.2_Frame_Shift_Del_p.V295fs|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Frame_Shift_Del_p.V412fs|ZNF226_uc002oyt.2_Frame_Shift_Del_p.V412fs	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	412	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CATCAAAGAGTTCATACAGGA	0.433													19	27	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51171508	51171508	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr19:51171508delC	uc002psx.1	-	22	3728	c.3709delG	c.(3709-3711)GTGfs	p.V1237fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.V621fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1237					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCGCCCCCACCAGGGCGGCC	0.562													2	4	---	---	---	---					
NCAPH	23397	broad.mit.edu	37	2	97017659	97017669	+	Frame_Shift_Del	DEL	AGAAGTGAACT	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr2:97017659_97017669delAGAAGTGAACT	uc002svz.1	+	7	895_905	c.811_821delAGAAGTGAACT	c.(811-822)AGAAGTGAACTGfs	p.R271fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.R247fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.R260fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.R247fs|NCAPH_uc010fhw.1_Frame_Shift_Del_p.R260fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.R135fs|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	271_274					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CCAGGACTACAGAAGTGAACTGCTGTTTCCC	0.479													17	39	---	---	---	---					
LOC96610	96610	broad.mit.edu	37	22	23214060	23214063	+	RNA	DEL	GGCA	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr22:23214060_23214063delGGCA	uc011aim.1	+	326		c.14137_14140delGGCA								Parts of antibodies, mostly variable regions.												0						TAAGAGTGATGGCAGCCACAGCAA	0.569													14	130	---	---	---	---					
OSTalpha	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr3:195955100_195955102delCTG	uc003fwd.2	+	5	678_680	c.477_479delCTG	c.(475-480)CCCTGC>CCC	p.C164del	OSTalpha_uc010iac.1_In_Frame_Del_p.C48del|OSTalpha_uc003fwe.2_In_Frame_Del_p.C31del	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	organic solute transporter alpha	164	Poly-Cys.					integral to membrane|plasma membrane	transporter activity			ovary(1)	1	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		ACACAGGCCCctgctgctgctgc	0.532													8	84	---	---	---	---					
UGT2A3	79799	broad.mit.edu	37	4	69817176	69817177	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr4:69817176_69817177insAA	uc003hef.2	-	1	333_334	c.302_303insTT	c.(301-303)TTAfs	p.L101fs	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	101	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GCCAGGTTGATAAGCCTGGCAA	0.351													9	38	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14387672	14387672	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chr5:14387672delT	uc003jff.2	+	22	3702	c.3696delT	c.(3694-3696)TCTfs	p.S1232fs	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Frame_Shift_Del_p.S1183fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.S881fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1232					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GAGATTTCTCTCTGCGGATGG	0.433													38	58	---	---	---	---					
SYP	6855	broad.mit.edu	37	X	49050637	49050638	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-11A-01D-2136-08									Somatic	Phase_I	Capture				Illumina GAIIx	3f779f68-566c-4996-8aab-4ca7af95061c	0083d081-d5bc-4a15-96c3-caacc093177d	g.chrX:49050637_49050638delTG	uc004dmz.1	-	4	424_425	c.408_409delCA	c.(406-411)AACAAAfs	p.N136fs	SYP_uc011mmz.1_Frame_Shift_Del_p.N18fs|SYP_uc004dna.1_Frame_Shift_Del_p.N130fs	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	136_137	MARVEL.|Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				ATGGGCCCTTTGTTATTCTCTC	0.564													20	7	---	---	---	---					
