Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HTR3C	170572	broad.mit.edu	37	3	183777748	183777748	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:183777748A>T	uc003fmk.3	+	7	1092	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	353						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGCTGCTCCACTGCACCAGC	0.642000													23	50					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20869182	20869182	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:20869182G>T	uc001vxe.3	-	8	1550	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L396I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	504	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCCCCCGTAGGCTCAGCTCC	0.547000													51	107					0	0	1	0	0
C18orf62	284274	broad.mit.edu	37	18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr18:73130763T>C	uc002lma.1	-	1	309	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	80						integral to membrane		p.R80G(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		ctgttggcccttttccagtct	0.368000													3	199					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182783539	182783539	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:182783539A>G	uc002uoi.3	+	12	3245	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	SSFA2_uc002uoh.3_Missense_Mutation_p.M975V|SSFA2_uc002uoj.3_Missense_Mutation_p.M975V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.M822V|SSFA2_uc002uol.3_Missense_Mutation_p.M822V|SSFA2_uc002uom.3_Missense_Mutation_p.M443V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	975						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGAACACAAATGATGGATTT	0.373000													3	99					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967675	57967675	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967675G>A	uc002qos.2	-	0	433	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	60					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G59E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413000													14	88					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15024673	15024673	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrY:15024673A>G	uc004fsu.1	+	5	625	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DDX3Y_uc010nwv.1_Missense_Mutation_p.I106V|DDX3Y_uc011naq.1_Missense_Mutation_p.I106V|DDX3Y_uc004fsv.2_Missense_Mutation_p.I106V|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.I103V	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	106						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTATGATGGTATTGGCAATCG	0.433000													4	65					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41364115	41364115	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr15:41364115T>C	uc001zni.3	-	11	1750	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	513	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTAAAAATTGTGGGCTGT	0.448000													3	218					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	579410	579410	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:579410C>T	uc002lpc.3	+	0	561	c.467C>T	c.(466-468)cCg>cTg	p.P156L	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002loz.3_Intron|BSG_uc002lpa.3_Intron	NM_198589	NP_940991	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 2, mRNA.	0	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCTTCCCGGGGAGGAGC	0.677000													4	38					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687826	61687826	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:61687826G>C	uc002eog.2	-	11	3041	c.2086C>G	c.(2086-2088)Ccc>Gcc	p.P696A		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCTTACGGGGTAAAAATCCA	0.408000													39	188					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48016402	48016402	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:48016402G>T	uc003tod.2	-	3	496	c.390C>A	c.(388-390)acC>acA	p.T130T		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	130					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATGTCATGGGTCACAATGC	0.408000								Direct reversal of damage;Other conserved DNA damage response genes					7	247					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40899976	40899976	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:40899976G>A	uc022acd.1	+	14	1338	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	C7orf10_uc003thn.2_Silent_p.G412G|C7orf10_uc003tho.2_Silent_p.G364G|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CGCTGCTCGGGCAGCACACAA	0.572000													11	285					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013729	9013729	+	Splice_Site	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:9013729A>G	uc001quz.4	+	28	3438	c.3340_splice	c.e28-2	p.D1114_splice	A2ML1_uc001qva.1_Splice_Site_p.D694_splice|A2ML1_uc010sgm.2_Splice_Site_p.D614_splice	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	958						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTCACTTTTTAGGACCCAATG	0.433000													3	193					0	0	1	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029485	38029485	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:38029485A>G	uc003onx.3	+	2	644	c.229A>G	c.(229-231)Act>Gct	p.T77A		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	77							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AACCACGCCAACTCTTAGTCC	0.493000													15	49					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48591854	48591854	+	Silent	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr4:48591854A>G	uc003gyh.1	-	17	2153	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	FRYL_uc003gyk.3_Silent_p.D516D	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGGATGCTATCTAATGCTT	0.353000													4	249					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49409405	49409405	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:49409405C>T	uc001jgi.3	-	14	2151	c.1820G>A	c.(1819-1821)aGc>aAc	p.S607N	FRMPD2_uc001jgh.3_Missense_Mutation_p.S575N|FRMPD2_uc001jgj.3_Missense_Mutation_p.S576N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	607	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGACACTGCTTGTGATGGT	0.453000													52	170					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	364573	364573	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:364573G>A	uc002cgp.2	-	2	1378	c.989C>T	c.(988-990)gCa>gTa	p.A330V	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A330V	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	330	Interaction with TP53 (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGTGTCTGCATCGCTGGA	0.627000													14	56					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045749	238045749	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:238045749C>T	uc001hym.3	-	11	1883	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	532					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGCAACTCTTCTGTTTCT	0.443000													5	209					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540102	128540102	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:128540102G>A	uc011ebu.2	-	5	1200	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PTPRK_uc010kfc.3_Missense_Mutation_p.S278F|PTPRK_uc003qbj.3_Missense_Mutation_p.S278F|PTPRK_uc003qbk.3_Missense_Mutation_p.S278F|PTPRK_uc003qbl.1_Missense_Mutation_p.S148F|PTPRK_uc011ebv.1_Missense_Mutation_p.S278F	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 1, mRNA.	278	Ig-like C2-type.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGACACACCGGAACCTCGTTC	0.398000													41	158					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040719	184040719	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:184040719A>G	uc010hxx.3	+	13	2198	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	EIF4G1_uc003fno.2_Missense_Mutation_p.I577V|EIF4G1_uc010hxw.2_Missense_Mutation_p.I472V|EIF4G1_uc003fnt.3_Missense_Mutation_p.I347V|EIF4G1_uc010hxy.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnp.3_Missense_Mutation_p.I636V|EIF4G1_uc003fnq.3_Missense_Mutation_p.I549V|EIF4G1_uc003fnr.3_Missense_Mutation_p.I472V|EIF4G1_uc003fns.3_Missense_Mutation_p.I596V|EIF4G1_uc003fnv.4_Missense_Mutation_p.I636V|EIF4G1_uc003fnw.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnx.3_Missense_Mutation_p.I440V|SNORD66_uc003fnz.3_5'Flank	NM_001194946	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 6, mRNA.	636	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGCCACATATCAGTGACGT	0.507000													6	285					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882196	64882196	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:64882196G>C	uc010aqf.3	+	4	748	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	MTHFD1_uc010aqe.2_Missense_Mutation_p.E157Q|MTHFD1_uc001xhb.3_Missense_Mutation_p.E121Q	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	121	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TATTGCACCCGAGAAGGATGT	0.383000													3	280					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547305	43547305	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr21:43547305G>A	uc002zag.1	+	17	3867	c.3867G>A	c.(3865-3867)ccG>ccA	p.P1289P	UMODL1_uc002zad.1_Silent_p.P1089P|UMODL1_uc002zae.1_Silent_p.P1217P|UMODL1_uc002zaf.1_Silent_p.P1161P|UMODL1_uc002zal.1_Silent_p.P111P|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1161						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAACCCCGTCTAGCAACG	0.562000													5	126					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894497	166894497	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:166894497A>G	uc002udo.4	-	16	2962	c.2735T>C	c.(2734-2736)tTt>tCt	p.F912S	SCN1A_uc010fpk.3_Missense_Mutation_p.F884S|SCN1A_uc021vsb.1_Missense_Mutation_p.F901S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTTTTACCAAAGAGCTGCAT	0.478000													35	117					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134122752	134122752	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:134122752C>G	uc001qhf.3	-	1	127	c.25G>C	c.(25-27)Gct>Cct	p.A9P	THYN1_uc001qhg.3_Missense_Mutation_p.A9P|THYN1_uc001qhh.3_Missense_Mutation_p.A9P|THYN1_uc001qhi.3_Missense_Mutation_p.A9P|THYN1_uc001qhj.3_Missense_Mutation_p.A9P|THYN1_uc009zdb.3_Missense_Mutation_p.A9P|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	9						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GAAGTCCCAGCCAGCCTCTTC	0.512000													3	148					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751210	13751210	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr5:13751210T>C	uc003jfd.2	-	64	11230	c.11188A>G	c.(11188-11190)Agg>Ggg	p.R3730G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3730	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAATGACCCTCCCCAGTAAC	0.443000									Kartagener syndrome				32	70					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200825160	200825160	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:200825160T>G	uc001gvl.3	+	15	4222	c.3952T>G	c.(3952-3954)Tta>Gta	p.L1318V	CAMSAP2_uc001gvk.3_Missense_Mutation_p.L1307V|CAMSAP2_uc001gvm.3_Missense_Mutation_p.L1291V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1318						cytoplasm|microtubule	protein binding										AGAAGGCTTCTTATCTCCAAG	0.388000													6	288					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967712	57967712	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967712G>A	uc002qos.2	-	0	396	c.143C>T	c.(142-144)tCa>tTa	p.S48L		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	48					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358000													17	91					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424735	121424735	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:121424735G>A	uc001pxx.3	+	16	2485	c.2356G>A	c.(2356-2358)Ggg>Agg	p.G786R		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	786					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTCTCACCGGGCTACGGGC	0.562000													4	234					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683262	87683262	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr8:87683262G>C	uc003ydx.3	-	3	451	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	135					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTTCACCAGGTTGTGTAGC	0.473000													12	499					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95797678	95797678	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:95797678C>T	uc004asw.2	+	17	2613	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	FGD3_uc004asx.2_Missense_Mutation_p.P661L|FGD3_uc004asz.2_Missense_Mutation_p.P662L|FGD3_uc011luc.1_Missense_Mutation_p.P265L	NM_001083536	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 1, mRNA.	662	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGCCGGACCCTGAGGAGAGG	0.672000													6	13					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103735059	103735059	+	Splice_Site	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:103735059T>C	uc009xwy.1	-	20	1509	c.1407_splice	c.e20-1	p.I469_splice	C10orf76_uc009xwx.1_Splice_Site	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	469						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGCAGCGTCTGTAACAGGGA	0.493000													19	49					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122273473	122273473	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:122273473C>T	uc001lev.1	+	2	568	c.216C>T	c.(214-216)atC>atT	p.I72I	PPAPDC1A_uc010qtd.2_Silent_p.I72I|PPAPDC1A_uc009xzl.1_Silent_p.I72I|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	72					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAAAATTATCCGGCGAACAG	0.413000													4	184					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190019	58190019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:58190019C>T	uc010rkg.2	-	0	768	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGAGAGGCACAGGTGGACAA	0.438000													27	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064376	9064376	+	Silent	SNP	C	C	T	rs150330701	by1000genomes	TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:9064376C>T	uc002mkp.3	-	2	23274	c.23070G>A	c.(23068-23070)ccG>ccA	p.P7690P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7692	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGACAGCGGGGAGGATG	0.562000													7	55					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96310945	96310945	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:96310945A>C	uc001tek.2	-	3	500	c.266T>G	c.(265-267)tTt>tGt	p.F89C		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	89										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGGCCCAAACTTTTCAAA	0.373000													6	94					0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530744	84530744	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:84530744T>C	uc011lst.2	+	3	766	c.665T>C	c.(664-666)cTt>cCt	p.L222P						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CCCTCTCCCCTTTTCCCACCG	0.542000													3	200					0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61551039	61551039	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:61551039C>T	uc001nsc.1	+	22	3182	c.3086C>T	c.(3085-3087)aCc>aTc	p.T1029I	C11orf9_uc001nse.1_Missense_Mutation_p.T989I|C11orf9_uc010rll.1_Missense_Mutation_p.T415I|C11orf9_uc021qkh.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	1029					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						ATGTCCATCACCTCCCAGTAC	0.617000													5	308					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31728716	31728716	+	Silent	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr13:31728716T>C	uc010aay.1	-	3	760	c.489A>G	c.(487-489)gtA>gtG	p.V163V	HSPH1_uc001utj.3_Intron|HSPH1_uc001utk.3_Intron|HSPH1_uc010aaw.3_Intron|HSPH1_uc001utl.3_Intron|HSPH1_uc010tds.2_Intron|HSPH1_uc010tdt.1_Intron|HSPH1_uc010aax.1_Intron			Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	0					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTAAAAGTAATACAAAGAACG	0.353000													14	46					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800585	74800585	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:74800585G>T	uc010rro.2	-	0	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGAGGCTGGGCTCTGCCA	0.502000													5	87					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95773945	95773945	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:95773945G>A	uc002sub.3	-	4	830	c.612C>T	c.(610-612)ggC>ggT	p.G204G	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Silent_p.G204G	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	204					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCAGGGGGGCCAAGACTGA	0.488000													4	130					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27332763	27332763	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:27332763C>G	uc003cdt.2	-	18	1869	c.1595G>C	c.(1594-1596)tGt>tCt	p.C532S	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	532	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTAAACACAGCCAAAAGC	0.383000													8	45					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967438	57967438	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967438G>C	uc002qos.2	-	0	670	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	139			I -> T (in allele VN1R1*2).		response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAAGGCAGATGGTGCTGA	0.428000													24	131					0	0	1	0	0
