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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample							
ENO1	2023	broad.mit.edu	37	1	8934961	8934961	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:8934961T>C	uc001apj.1	-	2	158	c.7A>G	c.(7-9)ATT>GTT	p.I3V	ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Missense_Mutation_p.I3V|ENO1_uc009vmi.1_Missense_Mutation_p.I3V|ENO1_uc009vmj.1_Missense_Mutation_p.I3V|ENO1_uc009vmk.1_5'UTR|ENO1_uc009vml.1_Missense_Mutation_p.I3V|ENO1_uc009vmm.1_RNA	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	3					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATCTTGAGAATAGACATGGTG	0.448		NaN											0	0	0	0.007835	0	38	38									
BAT2L2	23215	broad.mit.edu	37	1	171510162	171510162	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:171510162G>T	uc010pmg.1	+	16	3817	c.3551G>T	c.(3550-3552)GGA>GTA	p.G1184V	BAT2L2_uc010pmh.1_Missense_Mutation_p.G161V	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1184							protein C-terminus binding				0						CCAGATCAAGGATACAGAGGT	0.493		NaN											1	0	4.36969e-10	0.001855	5.34073e-10	13	64									
HMCN1	83872	broad.mit.edu	37	1	185972852	185972852	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:185972852C>G	uc001grq.1	+	29	4580	c.4351C>G	c.(4351-4353)CCA>GCA	p.P1451A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1451					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTCAAGTTCCACCCACCAT	0.433		NaN											0	0	0	0.00308	0	7	119									
CENPF	1063	broad.mit.edu	37	1	214814730	214814730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:214814730C>T	uc001hkm.2	+	12	3223	c.3049C>T	c.(3049-3051)CAG>TAG	p.Q1017*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1017	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTATCTGATCAGTACAAGCA	0.333		NaN											0	0	0	0.006122	0	16	79									
OR2B11	127623	broad.mit.edu	37	1	247614709	247614709	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:247614709C>T	uc010pyx.1	-	1	576	c.576G>A	c.(574-576)TCG>TCA	p.S192S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCAGCACACGACAGCTTGA	0.562		NaN											0	0	0	0.001984	0	7	32									
OR11L1	391189	broad.mit.edu	37	1	248005058	248005058	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:248005058G>A	uc001idn.1	-	1	141	c.141C>T	c.(139-141)ACC>ACT	p.T47T		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCACCACGGTGATGATGA	0.522		NaN											0	0	0	0.013537	0	10	27									
WAC	51322	broad.mit.edu	37	10	28908493	28908493	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:28908493G>A	uc001iuf.2	+	14	1987	c.1902G>A	c.(1900-1902)AAG>AAA	p.K634K	WAC_uc001iud.2_Silent_p.K589K|WAC_uc001iue.2_Silent_p.K324K|WAC_uc001iug.2_Silent_p.K531K|WAC_uc001iuh.2_Silent_p.K585K	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	634	Potential.				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						AACAAATTAAGGAACTTGAAA	0.318		NaN											0	0	0	0.001855	0	11	25									
LYZL2	119180	broad.mit.edu	37	10	30915167	30915167	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:30915167G>A	uc001ivk.2	-	3	316	c.303C>T	c.(301-303)AGC>AGT	p.S101S		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	55					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TGTTGTAGCCGCTCTCATAAT	0.557		NaN											0	0	0	0.010504	0	19	50									
ADK	132	broad.mit.edu	37	10	76349059	76349059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:76349059G>C	uc001jwi.2	+	8	818	c.746G>C	c.(745-747)AGA>ACA	p.R249T	ADK_uc010qlb.1_Missense_Mutation_p.R192T|ADK_uc001jwj.2_Missense_Mutation_p.R232T|ADK_uc010qlc.1_Missense_Mutation_p.R214T|ADK_uc001jwl.2_Missense_Mutation_p.R19T	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	249					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	ACTTTTGCTAGAGAGCAAGGC	0.338		NaN											0	0	0	0.003163	0	13	67									
GRID1	2894	broad.mit.edu	37	10	87487630	87487630	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:87487630G>T	uc001kdl.1	-	10	1616	c.1515C>A	c.(1513-1515)ATC>ATA	p.I505I	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.I76I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	505	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGCTCCCCGATCATCCCGT	0.532		NaN								Multiple Myeloma(13;0.14)			1	0	3.52763e-06	0.00499	4.12077e-06	13	51									
SORCS3	22986	broad.mit.edu	37	10	106918731	106918731	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106918731C>A	uc001kyi.1	+	11	1938	c.1711C>A	c.(1711-1713)CCA>ACA	p.P571T		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	571	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGACAGCCCCAGGACTTGT	0.383		NaN											1	0	1.06961e-07	0.00308	1.28354e-07	7	49									
SORCS3	22986	broad.mit.edu	37	10	106937850	106937850	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106937850G>T	uc001kyi.1	+	14	2155	c.1928G>T	c.(1927-1929)TGG>TTG	p.W643L	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	643	BNR 6.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCCACTCTTGGGACAAGTAT	0.463		NaN											1	0	0.000219431	0.00245	0.000249698	12	54									
OR5I1	10798	broad.mit.edu	37	11	55703362	55703362	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:55703362T>A	uc010ris.1	-	1	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AACATTTTTGTCACAATATTT	0.428		NaN											0	0	0	0.006122	0	17	39									
CTSW	1521	broad.mit.edu	37	11	65650570	65650570	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:65650570C>T	uc001ogc.1	+	8	818	c.776C>T	c.(775-777)CCC>CTC	p.P259L	CTSW_uc001ogb.1_Missense_Mutation_p.P259L	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	259					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		ACTTATGGCCCCATCACCGTG	0.607		NaN											0	0	0	0.01441	0	60	177									
BBS1	582	broad.mit.edu	37	11	66297375	66297375	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:66297375G>A	uc001oij.1	+	14	1437	c.1425G>A	c.(1423-1425)CTG>CTA	p.L475L	BBS1_uc001oii.1_Silent_p.L512L|BBS1_uc010rpg.1_Silent_p.L378L|BBS1_uc001oik.1_Silent_p.L399L|BBS1_uc001oil.1_Silent_p.L346L|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Silent_p.L143L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	475					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						AGTCCAGCCTGAGCCCCCTGT	0.667		NaN							Bardet-Biedl_syndrome				0	0	0	0.001168	0	5	17									
FAT3	120114	broad.mit.edu	37	11	92085844	92085844	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:92085844C>G	uc001pdj.3	+	1	583	c.566C>G	c.(565-567)TCC>TGC	p.S189C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	189	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATATTGGTTCCAATGGAGAA	0.408		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004482	0	8	33									
HEPHL1	341208	broad.mit.edu	37	11	93844208	93844208	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:93844208C>T	uc001pep.2	+	18	3342	c.3185C>T	c.(3184-3186)ACC>ATC	p.T1062I	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1062	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGGAGACAACCTACACGGTC	0.512		NaN											0	0	0	0.001168	0	5	18									
ATM	472	broad.mit.edu	37	11	108188181	108188181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:108188181G>A	uc001pkb.1	+	43	6665	c.6280G>A	c.(6280-6282)GAA>AAA	p.E2094K	ATM_uc009yxr.1_Missense_Mutation_p.E2094K|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E746K|ATM_uc001pkg.1_Missense_Mutation_p.E451K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2094	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGGTGTCCTGAACTAGAAGA	0.378		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.006999	0	35	124									
ARHGAP32	9743	broad.mit.edu	37	11	128839161	128839161	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:128839161C>G	uc009zcp.2	-	22	5905	c.5905G>C	c.(5905-5907)GAG>CAG	p.E1969Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E928Q|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1620Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1969	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTTCTTCCTCCTTGTAGCAG	0.537		NaN											0	0	0	0.00333	0	20	97									
NUP107	57122	broad.mit.edu	37	12	69121136	69121136	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:69121136A>C	uc001suf.2	+	20	1816	c.1701A>C	c.(1699-1701)GAA>GAC	p.E567D	NUP107_uc001sug.2_Missense_Mutation_p.E414D|NUP107_uc010stj.1_Missense_Mutation_p.E538D	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	567					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAAGGAGGAAGTTTCTATTG	0.234		NaN											0	0	0	0.003163	0	14	61									
UTP20	27340	broad.mit.edu	37	12	101679598	101679598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:101679598G>T	uc001tia.1	+	4	421	c.265G>T	c.(265-267)GTT>TTT	p.V89F	UTP20_uc009ztz.1_Missense_Mutation_p.V89F	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	89					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AAACGAGATAGTTCAGAGTTT	0.358		NaN											1	0	3.80469e-20	0.009535	5.0222e-20	30	80									
CCDC60	160777	broad.mit.edu	37	12	119909888	119909888	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:119909888A>G	uc001txe.2	+	3	725	c.260A>G	c.(259-261)CAG>CGG	p.Q87R	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	87	Potential.									ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAACAACTTCAGAAACTGAAA	0.423		NaN											0	0	0	0.009535	0	27	99									
NCOR2	9612	broad.mit.edu	37	12	124846735	124846735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:124846735G>A	uc010tba.1	-	22	3154	c.3037C>T	c.(3037-3039)CAG>TAG	p.Q1013*	NCOR2_uc010tay.1_Nonsense_Mutation_p.Q1012*|NCOR2_uc010taz.1_Nonsense_Mutation_p.Q996*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.Q1013*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.Q995*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.Q1013*	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1013					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCAGGCTGCTGAGGGGCGTCG	0.721		NaN											0	0	0	0.004482	0	6	18									
PDS5B	23047	broad.mit.edu	37	13	33315272	33315272	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:33315272G>C	uc010abf.2	+	22	2619	c.2461G>C	c.(2461-2463)GAG>CAG	p.E821Q	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	821					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTATCTCCTGAGACAATGGT	0.299		NaN											0	0	0	0.00499	0	12	44									
NALCN	259232	broad.mit.edu	37	13	101944345	101944345	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:101944345G>C	uc001vox.1	-	9	1232	c.1043C>G	c.(1042-1044)ACC>AGC	p.T348S	NALCN_uc001voy.2_Missense_Mutation_p.T63S|NALCN_uc001voz.2_Missense_Mutation_p.T348S|NALCN_uc001vpa.2_Missense_Mutation_p.T348S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	348	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGTACCTGGGTGGTGGCTGT	0.468		NaN											0	0	0	0.006122	0	13	101									
SRP54	6729	broad.mit.edu	37	14	35480773	35480773	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:35480773G>A	uc001wso.2	+	8	895	c.544G>A	c.(544-546)GAA>AAA	p.E182K	SRP54_uc010tpp.1_Missense_Mutation_p.E133K|SRP54_uc010tpq.1_Missense_Mutation_p.E118K	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	182	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATTTAAAAATGAAAATTTTGA	0.313		NaN											0	0	0	0.008361	0	25	72									
NIN	51199	broad.mit.edu	37	14	51206189	51206189	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:51206189A>G	uc001wym.2	-	26	5656	c.5465T>C	c.(5464-5466)ATA>ACA	p.I1822T	NIN_uc001wyi.2_Missense_Mutation_p.I1822T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.I1109T|NIN_uc010tqp.1_Missense_Mutation_p.I1828T|NIN_uc001wyo.2_Missense_Mutation_p.I1822T|NIN_uc001wyn.2_RNA	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1822					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGAGTAGCTATCTCTGGGGC	0.463		NaN	T	PDGFRB	MPD								0	0	0	0.006122	0	15	47									
SIX4	51804	broad.mit.edu	37	14	61186531	61186531	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:61186531C>T	uc001xfc.2	-	2	1496	c.1496G>A	c.(1495-1497)AGC>AAC	p.S499N	SIX4_uc010app.1_Missense_Mutation_p.S491N	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	499						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAATCCAATGCTCCCATTAAG	0.478		NaN											0	0	0	0.004656	0	20	84									
GOLGA5	9950	broad.mit.edu	37	14	93299497	93299497	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:93299497C>A	uc001yaz.1	+	10	1932	c.1750C>A	c.(1750-1752)CAG>AAG	p.Q584K	GOLGA5_uc001yba.1_5'UTR	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	584	Cytoplasmic (Potential).|Potential.			QS -> PV (in Ref. 8; CAB36967).	Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAATAGCAGTCAGTCTGAGTT	0.378		NaN	T	RET	papillary thyroid								1	0	2.48696e-23	0.003271	3.31594e-23	26	79									
DICER1	23405	broad.mit.edu	37	14	95560364	95560364	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:95560364T>C	uc001ydw.2	-	25	5407	c.5225A>G	c.(5224-5226)AAC>AGC	p.N1742S	DICER1_uc010avh.1_Missense_Mutation_p.N640S|DICER1_uc001ydv.2_Missense_Mutation_p.N1732S|DICER1_uc001ydx.2_Missense_Mutation_p.N1742S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1742	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGATGGTGTTGTTGACCAG	0.512		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.013726	0	27	51									
TLN2	83660	broad.mit.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:62939540C>T	uc002alb.3	+	1	31	c.31C>T	c.(31-33)CGC>TGC	p.R11C	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	11					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATTTGTGTGCGCCACTGCAA	0.488		NaN											0	0	0	0.008361	0	26	84									
IREB2	3658	broad.mit.edu	37	15	78780657	78780657	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:78780657G>A	uc002bdr.2	+	15	2092	c.1930G>A	c.(1930-1932)GAT>AAT	p.D644N	IREB2_uc010unb.1_Missense_Mutation_p.D394N	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	644							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGAATATAGATTTCCAGAC	0.363		NaN											0	0	0	0.012319	0	17	77									
KIAA1024	23251	broad.mit.edu	37	15	79750503	79750503	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:79750503G>A	uc002bew.1	+	2	2089	c.2014G>A	c.(2014-2016)GGA>AGA	p.G672R	KIAA1024_uc010unk.1_Missense_Mutation_p.G672R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	672						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGGCTCCCACGGACCCAAACT	0.547		NaN											0	0	0	0.01441	0	100	236									
HDGFRP3	50810	broad.mit.edu	37	15	83876119	83876119	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:83876119G>A	uc002bjs.1	-	1	203	c.48C>T	c.(46-48)TTC>TTT	p.F16F		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	16	PWWP.				cell proliferation	nucleus	growth factor activity				0						TCATCTTGGCGAAGACCAGGT	0.582		NaN											0	0	0	0.009096	0	3	16									
CREBBP	1387	broad.mit.edu	37	16	3807992	3807992	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:3807992C>G	uc002cvv.2	-	18	3631	c.3427G>C	c.(3427-3429)GAC>CAC	p.D1143H	CREBBP_uc002cvw.2_Missense_Mutation_p.D1105H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1143	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCCCTGTGTCCAGCTTCCGC	0.463		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.010729	0	9	31									
ACSM5	54988	broad.mit.edu	37	16	20432694	20432694	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:20432694C>A	uc002dhe.2	+	5	885	c.738C>A	c.(736-738)AGC>AGA	p.S246R		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	246					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						CCCAGAGCAGCTACGGACTGG	0.408		NaN											1	0	0.00829132	0.008291	0.00927503	9	33									
SLC12A3	6559	broad.mit.edu	37	16	56920342	56920342	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:56920342C>G	uc010ccm.2	+	16	2021	c.1992C>G	c.(1990-1992)ACC>ACG	p.T664T	SLC12A3_uc002ekd.3_Silent_p.T664T|SLC12A3_uc010ccn.2_Silent_p.T663T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	664	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGTGGGCACCTTCACCCGGA	0.572		NaN											0	0	0	0.004007	0	12	100									
PRMT7	54496	broad.mit.edu	37	16	68349908	68349908	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:68349908A>G	uc002evy.1	+	3	302	c.26A>G	c.(25-27)AAT>AGT	p.N9S	PRMT7_uc002evx.1_Missense_Mutation_p.N9S|PRMT7_uc010vlg.1_Missense_Mutation_p.N9S	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	9					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGTCGGGCCAATCCGACCACG	0.532		NaN											0	0	0	0.012319	0	13	53									
SPIRE2	84501	broad.mit.edu	37	16	89916779	89916779	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:89916779G>A	uc002foz.1	+	3	408	c.356G>A	c.(355-357)CGC>CAC	p.R119H	SPIRE2_uc010civ.1_Missense_Mutation_p.R34H|SPIRE2_uc010ciw.1_Missense_Mutation_p.R119H|SPIRE2_uc002fpa.1_Missense_Mutation_p.R71H|SPIRE2_uc010cix.1_5'UTR	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	119	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCGAGGAGCGCGAACTCAGC	0.701		NaN											0	0	0	0.00308	0	6	13									
PRDM7	11105	broad.mit.edu	37	16	90127012	90127012	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:90127012C>A	uc010cje.2	-	9	990	c.970G>T	c.(970-972)GAT>TAT	p.D324Y	PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.D118Y	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	324	SET.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTTCATCATCCCGGGCACAG	0.542		NaN											1	0	4.68919e-08	0.008291	5.67865e-08	8	92									
DPH1	1801	broad.mit.edu	37	17	1939321	1939321	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:1939321G>T	uc002fts.2	+	4	369	c.351G>T	c.(349-351)GTG>GTT	p.V117V	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.V112V|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Silent_p.V127V|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	117					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						CTTGCTGTGTGGATGACTTCA	0.652		NaN											1	0	0.00316338	0.003163	0.00356894	13	79									
ABCA9	10350	broad.mit.edu	37	17	67029998	67029998	+	Missense_Mutation	SNP	T	T	C	rs138456095	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67029998T>C	uc002jhu.2	-	9	1288	c.1145A>G	c.(1144-1146)TAT>TGT	p.Y382C	ABCA9_uc010dez.2_Missense_Mutation_p.Y382C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	382					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ATTCACATCATAGTCCAAATG	0.289		NaN											0	0	0	0.011902	0	35	149									
ABCA6	23460	broad.mit.edu	37	17	67079441	67079441	+	Missense_Mutation	SNP	C	C	G	rs143326198	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67079441C>G	uc002jhw.1	-	35	4562	c.4387G>C	c.(4387-4389)GAG>CAG	p.E1463Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1463	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ACACCTCTCTCTGTGTTTTTA	0.453		NaN											0	0	0	0.003271	0	25	48									
DSG2	1829	broad.mit.edu	37	18	29126318	29126318	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:29126318G>C	uc002kwu.3	+	15	3157	c.2969G>C	c.(2968-2970)AGA>ACA	p.R990T	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	990	Desmoglein repeat 4.|Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483		NaN											0	0	0	0.006214	0	10	27									
PIK3C3	5289	broad.mit.edu	37	18	39607448	39607448	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:39607448G>A	uc002lap.2	+	14	1584	c.1526G>A	c.(1525-1527)AGA>AAA	p.R509K	PIK3C3_uc010xcl.1_Missense_Mutation_p.R446K|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	509					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						ACTCAGCAGAGAGATCCAAAG	0.328		NaN								TSP Lung(28;0.18)			0	0	0	0.001984	0	6	71									
MALT1	10892	broad.mit.edu	37	18	56414989	56414989	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:56414989A>G	uc002lhm.1	+	17	2648	c.2390A>G	c.(2389-2391)CAT>CGT	p.H797R	MALT1_uc002lhn.1_Missense_Mutation_p.H786R	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	797					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						GCTTCATGTCATTTTAGTAGA	0.398		NaN	T	BIRC3	MALT								0	0	0	0.01441	0	49	170									
TMEM146	257062	broad.mit.edu	37	19	5727329	5727329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:5727329C>A	uc002mda.2	+	3	238	c.177C>A	c.(175-177)TGC>TGA	p.C59*	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	59	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AACATCCTTGCGAGAAAAATA	0.328		NaN											1	0	1.17739e-12	0.005443	1.49438e-12	25	78									
GIPR	2696	broad.mit.edu	37	19	46180989	46180989	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:46180989C>G	uc002pcu.1	+	10	975	c.876C>G	c.(874-876)GTC>GTG	p.V292V	GIPR_uc002pct.1_Silent_p.V292V|GIPR_uc010xxp.1_Silent_p.V256V|GIPR_uc010xxq.1_Intron	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	292	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCAACGAAGTCAAGGCCATTT	0.562		NaN											0	0	0	0.01441	0	60	249									
PLA2G4C	8605	broad.mit.edu	37	19	48601511	48601511	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:48601511C>T	uc002phx.2	-	6	851	c.453G>A	c.(451-453)CCG>CCA	p.P151P	PLA2G4C_uc002phw.2_Silent_p.P86P|PLA2G4C_uc010elr.2_Silent_p.P151P|PLA2G4C_uc010xzd.1_Silent_p.P161P|PLA2G4C_uc002phy.3_Silent_p.P151P	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	151	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATGAGACTCCGGCAGCTTTG	0.498		NaN											0	0	0	0.009096	0	4	47									
HSD17B14	51171	broad.mit.edu	37	19	49316806	49316806	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:49316806G>A	uc002pkv.1	-	8	812	c.546C>T	c.(544-546)ATC>ATT	p.I182I	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	182					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTCCTGGGGAGATACTAGAGG	0.607		NaN											0	0	0	0.001984	0	6	28									
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:54692102C>A	uc002qdq.2	-	4	441	c.175G>T	c.(175-177)GGG>TGG	p.G59W	MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.G41W|MBOAT7_uc002qdr.2_Missense_Mutation_p.G59W|MBOAT7_uc002qds.2_Missense_Mutation_p.R28L|MBOAT7_uc010yen.1_Missense_Mutation_p.R28L|MBOAT7_uc002qdt.3_Missense_Mutation_p.G59W|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	59	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622		NaN											1	0	3.67414e-24	0.012213	4.94884e-24	25	100									
MSGN1	343930	broad.mit.edu	37	2	17998336	17998336	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:17998336G>A	uc010yjt.1	+	1	551	c.551G>A	c.(550-552)CGC>CAC	p.R184H		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTAACCGCGGCAGAGAG	0.577		NaN											0	0	0	0.006122	0	13	49									
PLEKHH2	130271	broad.mit.edu	37	2	43939394	43939394	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:43939394A>T	uc010yny.1	+	15	2415	c.2332A>T	c.(2332-2334)ACT>TCT	p.T778S	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T777S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	778	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATACTATCTGACTGCAGATTC	0.408		NaN											0	0	0	0.003755	0	27	132									
USP34	9736	broad.mit.edu	37	2	61566811	61566811	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:61566811C>T	uc002sbe.2	-	17	2528	c.2506G>A	c.(2506-2508)GTA>ATA	p.V836I		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	836					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)			TTATGAACTACAGGTCCTGAA	0.328		NaN											0	0	0	0.001168	0	6	18									
DYSF	8291	broad.mit.edu	37	2	71892312	71892312	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:71892312G>A	uc002sie.2	+	46	5454	c.5078G>A	c.(5077-5079)CGG>CAG	p.R1693Q	DYSF_uc010feg.2_Missense_Mutation_p.R1724Q|DYSF_uc010feh.2_Missense_Mutation_p.R1700Q|DYSF_uc002sig.3_Missense_Mutation_p.R1679Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1714Q|DYSF_uc010fef.2_Missense_Mutation_p.R1731Q|DYSF_uc010fei.2_Missense_Mutation_p.R1710Q|DYSF_uc010fek.2_Missense_Mutation_p.R1711Q|DYSF_uc010fej.2_Missense_Mutation_p.R1701Q|DYSF_uc010fel.2_Missense_Mutation_p.R1680Q|DYSF_uc010feo.2_Missense_Mutation_p.R1725Q|DYSF_uc010fem.2_Missense_Mutation_p.R1715Q|DYSF_uc010fen.2_Missense_Mutation_p.R1732Q|DYSF_uc002sif.2_Missense_Mutation_p.R1694Q|DYSF_uc010yqy.1_Missense_Mutation_p.R574Q|DYSF_uc010yqz.1_Missense_Mutation_p.R454Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1693	Cytoplasmic (Potential).		R -> Q (in MMD1).|R -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AACCAGTGGCGGGACCAGCTC	0.562		NaN											0	0	0	0.01441	0	42	167									
AFF3	3899	broad.mit.edu	37	2	100209852	100209852	+	Silent	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:100209852T>C	uc002tag.2	-	14	2507	c.2271A>G	c.(2269-2271)CTA>CTG	p.L757L	AFF3_uc002taf.2_Silent_p.L782L|AFF3_uc010fiq.1_Silent_p.L757L|AFF3_uc010yvr.1_Silent_p.L910L|AFF3_uc002tah.1_Silent_p.L782L	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	757					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CACTGTCCTTTAGAGGGGAGA	0.577		NaN											0	0	0	0.004007	0	14	46									
RGPD3	653489	broad.mit.edu	37	2	107040980	107040980	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:107040980G>T	uc010ywi.1	-	20	3500	c.3443C>A	c.(3442-3444)GCA>GAA	p.A1148E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1148	RanBD1 1.				intracellular transport		binding			ovary(1)	1						AAATTTTGCTGCCAATCGCTC	0.453		NaN											1	0	1.06801e-11	0.009535	1.34264e-11	29	170									
RANBP2	5903	broad.mit.edu	37	2	109379691	109379691	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:109379691A>G	uc002tem.3	+	20	2824	c.2698_splice	c.e20-2	p.G900_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCTGTCTTTTAGGGCCCAGTC	0.398		NaN											0	0	0	0.006122	0	16	39									
NXPH2	11249	broad.mit.edu	37	2	139429145	139429145	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:139429145C>A	uc002tvi.2	-	2	142	c.142G>T	c.(142-144)GTG>TTG	p.V48L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	48	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTGAGTGCACCACGTTGCCG	0.542		NaN											1	0	5.43694e-19	0.005524	7.1057e-19	33	132									
LRP2	4036	broad.mit.edu	37	2	170097513	170097513	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:170097513C>G	uc002ues.2	-	25	4243	c.4030G>C	c.(4030-4032)GAG>CAG	p.E1344Q	LRP2_uc010zdf.1_Missense_Mutation_p.E1207Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1344	LDL-receptor class A 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGGGGACTCATCTGTCCCA	0.483		NaN											0	0	0	0.008361	0	28	78									
MAP1D	254042	broad.mit.edu	37	2	172928446	172928446	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:172928446A>G	uc002uhk.2	+	3	279	c.206A>G	c.(205-207)AAG>AGG	p.K69R	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	69					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AAGCACATAAAGAAGCCAGAC	0.458		NaN											0	0	0	0.001168	0	4	19									
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:179629296C>T	uc010zfg.1	-	42	10170	c.9946G>A	c.(9946-9948)GAC>AAC	p.D3316N	TTN_uc010zfh.1_Missense_Mutation_p.D3270N|TTN_uc010zfi.1_Missense_Mutation_p.D3270N|TTN_uc010zfj.1_Missense_Mutation_p.D3270N|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.D3316N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3316							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATAGTCATTCTTGGCT	0.453		NaN											0	0	0	0.004007	0	12	136									
XRCC5	7520	broad.mit.edu	37	2	216992289	216992289	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:216992289A>G	uc002vfy.2	+	8	969	c.829A>G	c.(829-831)ACA>GCA	p.T277A	XRCC5_uc002vfz.2_Missense_Mutation_p.T163A	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	277	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACTTGGACAGTTGTGGA	0.308		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	0.001855	0	12	47									
SIRPB2	284759	broad.mit.edu	37	20	1460373	1460373	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:1460373C>T	uc002wfg.2	-	2	651	c.423G>A	c.(421-423)TCG>TCA	p.S141S	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Silent_p.S3S	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	141	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane					0						TGCCTTCATCCGATTTCATTT	0.478		NaN											0	0	0	0.01441	0	79	192									
ITCH	83737	broad.mit.edu	37	20	33028050	33028050	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:33028050C>A	uc010geu.1	+	10	1085	c.893C>A	c.(892-894)TCT>TAT	p.S298Y	ITCH_uc002xak.2_Missense_Mutation_p.S257Y|ITCH_uc010zuj.1_Missense_Mutation_p.S147Y	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	298					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						ACAAATACATCTGAAGGAGCA	0.448		NaN											1	0	2.35188e-11	0.006122	2.90139e-11	17	59									
C20orf132	140699	broad.mit.edu	37	20	35743603	35743603	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:35743603C>T	uc010zvu.1	-	21	2629	c.2538G>A	c.(2536-2538)ATG>ATA	p.M846I	C20orf132_uc002xgk.2_Missense_Mutation_p.M468I	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)				ACAGGGTCCTCATCATGGCAG	0.458		NaN											0	0	0	0.001984	0	7	60									
SMTN	6525	broad.mit.edu	37	22	31486843	31486843	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:31486843C>T	uc003ajl.1	+	9	1133	c.915C>T	c.(913-915)CCC>CCT	p.P305P	SMTN_uc003ajk.1_Silent_p.P305P|SMTN_uc003ajm.1_Silent_p.P305P|SMTN_uc011ale.1_Silent_p.P359P|SMTN_uc011alf.1_Silent_p.P361P|SMTN_uc003ajn.1_Silent_p.P297P|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	305					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TGCTCAGCCCCCGCCAACCAG	0.622		NaN											0	0	0	0.01441	0	71	177									
DEPDC5	9681	broad.mit.edu	37	22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:32239701G>A	uc003als.2	+	29	2819	c.2677G>A	c.(2677-2679)GTC>ATC	p.V893I	DEPDC5_uc011als.1_Missense_Mutation_p.V824I|DEPDC5_uc011alu.1_Missense_Mutation_p.V902I|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.V893I|DEPDC5_uc003alu.2_Missense_Mutation_p.V342I|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.V223I|DEPDC5_uc003alw.2_Missense_Mutation_p.V191I|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	893					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CTCAGAGTTCGTCTCCTGCTG	0.498		NaN											0	0	0	0.01441	0	47	103									
ENTHD1	150350	broad.mit.edu	37	22	40161511	40161511	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:40161511G>A	uc003ayg.2	-	6	1187	c.936C>T	c.(934-936)CTC>CTT	p.L312L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	312										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GTGTTTCCAAGAGGTTTTCTG	0.413		NaN											0	0	0	0.01441	0	41	128									
LHFPL4	375323	broad.mit.edu	37	3	9547837	9547837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:9547837C>T	uc003bry.2	-	3	743	c.457G>A	c.(457-459)GAG>AAG	p.E153K		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	153						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					CGGATGGTCTCGGCATCCCAG	0.612		NaN											0	0	0	0.01441	0	71	101									
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:18427954C>T	uc003cbh.2	-	8	3091	c.1356G>A	c.(1354-1356)TTG>TTA	p.L452L	SATB1_uc003cbi.2_Silent_p.L452L|SATB1_uc003cbj.2_Silent_p.L452L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	452					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						AGGCAGCATTCAAGCTCCTTT	0.547		NaN											0	0	0	0.013537	0	8	175									
EFHB	151651	broad.mit.edu	37	3	19947209	19947209	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:19947209T>C	uc003cbl.3	-	6	1517	c.1321A>G	c.(1321-1323)AGT>GGT	p.S441G	EFHB_uc003cbm.2_Missense_Mutation_p.S311G	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	441					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						CTATGGAAACTTGATGGGTTA	0.398		NaN											0	0	0	0.00632	0	27	43									
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:32031962A>G	uc011axg.1	+	2	1940	c.1391A>G	c.(1390-1392)CAT>CGT	p.H464R		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGACCTTCCATCACAATTCA	0.418		NaN											0	0	0	0.001984	0	7	138									
MAP4	4134	broad.mit.edu	37	3	47958161	47958161	+	Missense_Mutation	SNP	T	T	C	rs142423472	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:47958161T>C	uc003csb.2	-	7	1682	c.1156A>G	c.(1156-1158)ATA>GTA	p.I386V	MAP4_uc003csc.3_Missense_Mutation_p.I386V|MAP4_uc011bbf.1_Missense_Mutation_p.I363V|MAP4_uc003csf.3_Missense_Mutation_p.I403V	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	386	17 X 14 AA tandem repeats.|26 residues 2.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCCATTTTTATAGGAGATGCC	0.453		NaN											0	0	0	0.00874	0	38	162									
MORC1	27136	broad.mit.edu	37	3	108812380	108812380	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:108812380G>T	uc003dxl.2	-	8	679	c.592C>A	c.(592-594)CTG>ATG	p.L198M	MORC1_uc011bhn.1_Missense_Mutation_p.L198M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	198					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TAAATAACCAGCAAAGTACCT	0.363		NaN											1	0	1.55795e-14	0.012319	2.01617e-14	17	41									
PLCH1	23007	broad.mit.edu	37	3	155206449	155206449	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:155206449C>A	uc011bok.1	-	19	2780	c.2503G>T	c.(2503-2505)GGC>TGC	p.G835C	PLCH1_uc011boj.1_Missense_Mutation_p.G835C|PLCH1_uc011bol.1_Missense_Mutation_p.G817C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	835					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATACCTACCAGGCACTAAG	0.418		NaN											1	0	2.35188e-11	0.006122	2.90139e-11	15	31									
CYTL1	54360	broad.mit.edu	37	4	5016903	5016903	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:5016903G>A	uc003gig.2	-	4	411	c.386C>T	c.(385-387)ACG>ATG	p.T129M		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	129					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGGCAGGACCGTAGTCACTGG	0.483		NaN											0	0	0	0.003954	0	18	49									
LRRC66	339977	broad.mit.edu	37	4	52862091	52862091	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:52862091C>T	uc003gzi.2	-	4	1110	c.1097G>A	c.(1096-1098)GGC>GAC	p.G366D		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	366						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CTCTTTTTTGCCGGCAGCCTG	0.592		NaN											0	0	0	0.001168	0	6	27									
SHROOM3	57619	broad.mit.edu	37	4	77700119	77700119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:77700119T>C	uc011cbx.1	+	11	6733	c.5780T>C	c.(5779-5781)ATG>ACG	p.M1927T	SHROOM3_uc003hkg.2_Missense_Mutation_p.M1705T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1927	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TTCGTGAAAATGAAGTCCACG	0.547		NaN											0	0	0	0.005443	0	24	82									
ANK2	287	broad.mit.edu	37	4	114286340	114286340	+	Splice_Site	SNP	T	T	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:114286340T>G	uc003ibe.3	+	41	11132	c.11032_splice	c.e41+2	p.G3678_splice	ANK2_uc003ibd.3_Splice_Site_p.G1584_splice|ANK2_uc003ibf.3_Splice_Site_p.G1593_splice|ANK2_uc011cgc.1_Splice_Site_p.G769_splice|ANK2_uc003ibg.3_Splice_Site_p.G577_splice|ANK2_uc003ibh.3_Splice_Site_p.G267_splice|ANK2_uc011cgd.1_Splice_Site_p.G980_splice	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAGTGAAGGTCAAACtgtgt	0.294		NaN											0	0	0	0.001984	0	7	49									
DCHS2	54798	broad.mit.edu	37	4	155191121	155191121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:155191121G>A	uc003inw.2	-	19	5143	c.5143C>T	c.(5143-5145)CAG>TAG	p.Q1715*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1715	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTCCTGAATTGAGTCA	0.338		NaN											0	0	0	0.005443	0	21	69									
ADAMTS6	11174	broad.mit.edu	37	5	64537939	64537939	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:64537939T>C	uc003jtp.2	-	15	2739	c.1925A>G	c.(1924-1926)TAT>TGT	p.Y642C	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.Y263C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	642					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCTCCAGTATAGGGTTTCCA	0.378		NaN											0	0	0	0.010729	0	9	40									
AQPEP	206338	broad.mit.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:115323525C>T	uc003kro.2	+	4	1158	c.994C>T	c.(994-996)CGG>TGG	p.R332W	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	332	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CATCTGGGCCCGGAAAGATGC	0.418		NaN											0	0	0	0.00245	0	13	75									
PCDHGA2	56113	broad.mit.edu	37	5	140718896	140718896	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140718896G>C	uc003ljk.1	+	1	543	c.358G>C	c.(358-360)GAG>CAG	p.E120Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E120Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	120	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATTCAGTAGAGGTGGAAAT	0.458		NaN											0	0	0	0.001984	0	5	54									
PCDHGB2	56103	broad.mit.edu	37	5	140740084	140740084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140740084G>A	uc003ljs.1	+	1	382	c.382G>A	c.(382-384)GAT>AAT	p.D128N	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_uc011dar.1_Missense_Mutation_p.D128N	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	128	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATAAATGATAATACCCC	0.398		NaN											0	0	0	0.00245	0	14	29									
FAM8A1	51439	broad.mit.edu	37	6	17601039	17601039	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:17601039C>T	uc003ncc.2	+	1	522	c.399C>T	c.(397-399)AGC>AGT	p.S133S		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	133						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGGCACAGCGGCCTGGCCG	0.637		NaN											0	0	0	0.00245	0	12	49									
HIST1H2AC	8334	broad.mit.edu	37	6	26124513	26124513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:26124513G>C	uc003ngm.2	+	1	141	c.53G>C	c.(52-54)CGC>CCC	p.R18P	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R18P	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	18					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGAAATCCCGCTCTTCTCGC	0.597		NaN											0	0	0	0.006122	0	13	38									
C6orf142	90523	broad.mit.edu	37	6	53989534	53989534	+	Silent	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:53989534C>A	uc003pcg.3	+	3	596	c.483C>A	c.(481-483)CCC>CCA	p.P161P	C6orf142_uc003pcf.2_Silent_p.P161P|C6orf142_uc003pch.3_Silent_p.P99P|C6orf142_uc011dwz.1_Silent_p.P120P|C6orf142_uc011dxa.1_Silent_p.P172P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	161						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTGTCCGGCCCAAGTCTCTAG	0.527		NaN											1	0	1.75199e-13	0.007291	2.24526e-13	23	68									
C6orf182	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:109484117C>T	uc010kdk.2	+	13	1904	c.1327C>T	c.(1327-1329)CGA>TGA	p.R443*	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Nonsense_Mutation_p.R443*|C6orf182_uc003psy.3_Nonsense_Mutation_p.R443*	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	443						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TCATCCAATACGAGTTCATAA	0.358		NaN											0	0	0	0.001168	0	6	30									
THBS2	7058	broad.mit.edu	37	6	169632172	169632172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:169632172G>A	uc003qwt.2	-	14	2302	c.2054C>T	c.(2053-2055)GCG>GTG	p.A685V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	685	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCGTCGCCCGCGTAGCCTGT	0.622		NaN											0	0	0	0.012213	0	30	89									
SCIN	85477	broad.mit.edu	37	7	12680101	12680101	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:12680101C>G	uc003ssn.3	+	11	1750	c.1540C>G	c.(1540-1542)CAA>GAA	p.Q514E	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q267E	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	514	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACGCCTCTTTCAAGTCCGGAG	0.458		NaN											0	0	0	0.009096	0	3	21									
CNTNAP2	26047	broad.mit.edu	37	7	146829367	146829367	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:146829367T>A	uc003weu.1	+	8	1630	c.1114T>A	c.(1114-1116)TAT>AAT	p.Y372N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	372	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGGAACCCTATACGGTGCC	0.448		NaN								HNSCC(39;0.1)			0	0	0	0.013114	0	37	95									
SSPO	23145	broad.mit.edu	37	7	149522398	149522398	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:149522398C>T	uc010lpk.2	+	101	14025	c.14025C>T	c.(14023-14025)ACC>ACT	p.T4675T	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4675	TIL 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTATTCACCCTGGACTGTG	0.637		NaN											0	0	0	0.01441	0	67	135									
DEFA5	1670	broad.mit.edu	37	8	6914048	6914048	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:6914048C>A	uc003wra.1	-	1	212	c.172G>T	c.(172-174)GGT>TGT	p.G58C		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	58					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGTCTCCTACCTGAGGTTCTA	0.338		NaN											1	0	3.07112e-06	0.010729	3.61953e-06	8	77									
PLAT	5327	broad.mit.edu	37	8	42045071	42045071	+	Silent	SNP	G	G	A	rs114679748	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:42045071G>A	uc003xos.2	-	6	593	c.384C>T	c.(382-384)TAC>TAT	p.Y128Y	PLAT_uc010lxf.1_Silent_p.Y45Y|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.Y82Y|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	128	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGGTCCTCGTAGCACGTGG	0.632		NaN											0	0	0	0.00499	0	13	42									
HSPA5	3309	broad.mit.edu	37	9	127999293	127999293	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:127999293C>G	uc004bpn.2	-	8	1799	c.1543G>C	c.(1543-1545)GAC>CAC	p.D515H		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	515					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	GTACCCTTGTCTTCAGCTGTC	0.438		NaN								Prostate(1;0.17)			0	0	0	0.01441	0	37	145									
LCN15	389812	broad.mit.edu	37	9	139656658	139656658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:139656658C>T	uc004cjd.2	-	5	527	c.502G>A	c.(502-504)GTC>ATC	p.V168I		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	168					lipid metabolic process	extracellular region	binding|transporter activity				0						GGCAGCATGACCATCATGTCC	0.657		NaN											0	0	0	0.00308	0	3	8									
FRMPD4	9758	broad.mit.edu	37	X	12736410	12736410	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:12736410C>T	uc004cuz.1	+	16	3971	c.3465C>T	c.(3463-3465)ACC>ACT	p.T1155T	FRMPD4_uc011mij.1_Silent_p.T1147T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1155					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CTGACGTGACCTGTGCATCTT	0.562		NaN											0	0	0	0.01441	0	60	52									
ZNF645	158506	broad.mit.edu	37	X	22291514	22291514	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:22291514C>T	uc004dai.1	+	1	455	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	136	C2H2-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TCATATCAAACGCCGCCATAA	0.438		NaN											0	0	0	0.013537	0	11	22									
FMO5	2330	broad.mit.edu	37	1	146684955	146684955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:146684955delT	uc001epi.2	-	4	796	c.407delA	c.(406-408)AAGfs	p.K136fs	FMO5_uc001eph.3_Frame_Shift_Del_p.K136fs|FMO5_uc001epj.2_Frame_Shift_Del_p.K136fs|FMO5_uc001epk.3_Frame_Shift_Del_p.K136fs	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	136						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					ATTCATCTCCTTTTTCCCTTC	0.473		NaN											NaN	NaN	NaN	NaN	NaN	8	600	---	---							
TET1	80312	broad.mit.edu	37	10	70446227	70446228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:70446227_70446228insA	uc001jok.3	+	11	5672_5673	c.5167_5168insA	c.(5167-5169)GAAfs	p.E1723fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1723					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TGGCTCCAAGGAAGGAATGGAA	0.495		NaN											NaN	NaN	NaN	NaN	NaN	26	88	---	---							
CDHR1	92211	broad.mit.edu	37	10	85974343	85974345	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:85974343_85974345delAGA	uc001kcv.2	+	17	2546_2548	c.2546_2548delAGA	c.(2545-2550)GAGAAG>GAG	p.K851del	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_In_Frame_Del_p.K555del|CDHR1_uc001kcx.2_In_Frame_Del_p.K165del	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	851	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CAAAAGTTTGAGAAGAAGAGTGT	0.562		NaN									OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	27	121	---	---							
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:102107836_102107838delACC	uc001kqy.2	+	2	533_535	c.43_45delACC	c.(43-45)ACCdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	19	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581		NaN											NaN	NaN	NaN	NaN	NaN	8	229	---	---							
PCNX	22990	broad.mit.edu	37	14	71568799	71568800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:71568799_71568800insT	uc001xmo.2	+	31	6128_6129	c.5682_5683insT	c.(5680-5685)GAAGGGfs	p.E1894fs	PCNX_uc010are.1_Frame_Shift_Ins_p.E1783fs|PCNX_uc010arf.1_Frame_Shift_Ins_p.E682fs|PCNX_uc001xmp.2_Translation_Start_Site	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1894_1895						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAGCCCATGAAGGGGACCCTGC	0.45		NaN											NaN	NaN	NaN	NaN	NaN	25	240	---	---							
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:57486732_57486734delGAG	uc002elq.2	+	3	278_280	c.262_264delGAG	c.(262-264)GAGdel	p.E91del	COQ9_uc002elp.1_In_Frame_Del_p.E91del|COQ9_uc010vhn.1_In_Frame_Del_p.E91del|COQ9_uc010vho.1_In_Frame_Del_p.E91del|COQ9_uc010vhp.1_In_Frame_Del_p.E91del|COQ9_uc002elr.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	91					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CCAGGGCGGCGAGGAGGAGGAGG	0.576		NaN											NaN	NaN	NaN	NaN	NaN	7	251	---	---							
AKAP10	11216	broad.mit.edu	37	17	19880956	19880956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:19880956delG	uc002gwo.2	-	1	174	c.37delC	c.(37-39)CGCfs	p.R13fs	AKAP10_uc002gwp.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010cqw.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010vze.1_5'UTR	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	13					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGAGGGTGCGGGGGGACTGG	0.746		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---	---							
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:36054349_36054351delCTT	uc002oal.1	-	2	120_122	c.91_93delAAG	c.(91-93)AAGdel	p.K31del		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	31	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601		NaN											NaN	NaN	NaN	NaN	NaN	7	555	---	---							
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:55146148_55146150delCTC	uc002qgj.2	+	11	1757_1759	c.1417_1419delCTC	c.(1417-1419)CTCdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)		large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.458		NaN								HNSCC(37;0.09)			NaN	NaN	NaN	NaN	NaN	8	86	---	---							
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:83785565delT	uc003hnf.2	-	11	1548	c.1384delA	c.(1384-1386)ATTfs	p.I462fs	SEC31A_uc003hne.2_Frame_Shift_Del_p.I234fs|SEC31A_uc011ccl.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnl.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hng.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnh.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hni.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnj.2_Frame_Shift_Del_p.I462fs|SEC31A_uc011ccm.1_Frame_Shift_Del_p.I457fs|SEC31A_uc011ccn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnk.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnm.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hno.2_Frame_Shift_Del_p.I462fs	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	462	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353		NaN											NaN	NaN	NaN	NaN	NaN	7	60	---	---							
NFE2L3	9603	broad.mit.edu	37	7	26224583	26224584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:26224583_26224584insT	uc003sxq.2	+	4	1537_1538	c.1265_1266insT	c.(1264-1266)TCTfs	p.S422fs		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	422					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						TCTGGCCTTTCTTTAGATTCAA	0.376		NaN											NaN	NaN	NaN	NaN	NaN	82	120	---	---							
GLI3	2737	broad.mit.edu	37	7	42116455	42116456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:42116455_42116456insT	uc011kbh.1	-	4	459_460	c.368_369insA	c.(367-369)CACfs	p.H123fs	GLI3_uc011kbg.1_Frame_Shift_Ins_p.H64fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	123					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H123D(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GATGAGGAGGGTCTGAAAAGAA	0.436		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				NaN	NaN	NaN	NaN	NaN	12	45	---	---