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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C1orf130	400746	broad.mit.edu	37	1	24932146	24932146	+	Missense_Mutation	SNP	G	A	A	rs113438005		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:24932146G>A	uc001bjk.2	+	3	318	c.217G>A	c.(217-219)Gcc>Acc	p.A73T		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	73						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		CAAGCCAACCGCCCCTTCTGC	0.592000														39			11		0	0	0.013537	0	0
TRIM51	84767	broad.mit.edu	37	11	55653246	55653246	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:55653246G>A	uc010rip.2	+	1	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	114						intracellular	zinc ion binding										TCTGTTTGCCGTGCTCCAACT	0.507000														9			9		0	0	0.010729	0	0
ZNF654	55279	broad.mit.edu	37	3	88189554	88189554	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	uc003dqv.3	+	0	1293	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358000														14			6		0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71887771	71887771	+	Missense_Mutation	SNP	G	A	A	rs147056383	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	uc010fen.3	+	44	5134	c.4993G>A	c.(4993-4995)Gta>Ata	p.V1665I	DYSF_uc010fei.3_Missense_Mutation_p.V1643I|DYSF_uc010feh.3_Missense_Mutation_p.V1633I|DYSF_uc002sig.4_Missense_Mutation_p.V1612I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.V1657I|DYSF_uc010fee.3_Missense_Mutation_p.V1647I|DYSF_uc010fef.3_Missense_Mutation_p.V1664I|DYSF_uc002sie.3_Missense_Mutation_p.V1626I|DYSF_uc010feo.3_Missense_Mutation_p.V1658I|DYSF_uc010fej.3_Missense_Mutation_p.V1634I|DYSF_uc010fel.3_Missense_Mutation_p.V1613I|DYSF_uc010fem.3_Missense_Mutation_p.V1648I|DYSF_uc002sif.3_Missense_Mutation_p.V1627I|DYSF_uc010fek.3_Missense_Mutation_p.V1644I|DYSF_uc010yqy.2_Missense_Mutation_p.V507I|DYSF_uc010yqz.2_Missense_Mutation_p.V387I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1626						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507000														25			5		0	0	0.000602	0	0
X97876	0	broad.mit.edu	37	9	66499793	66499793	+	Silent	SNP	G	A	A	rs138477209	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr9:66499793G>A	uc004aee.1	+	0	603	c.603G>A	c.(601-603)tcG>tcA	p.S201S	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGTGCAAGTCGCGCAAGGAGC	0.587000														21			11		0	0	0.004007	0	0
BEST2	54831	broad.mit.edu	37	19	12866569	12866569	+	Silent	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	uc002mux.3	+	5	855	c.855C>T	c.(853-855)gcC>gcT	p.A285A		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	285					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582000														29			3		0	0	0.000602	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776380	31776380	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	uc001zfq.3	-	10	1991	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	OTUD7A_uc001zfr.3_Missense_Mutation_p.R640H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	633						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672000														11			5		0	0	0.001984	0	0
RERE	473	broad.mit.edu	37	1	8415150	8415150	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	uc001ape.3	-	23	5508	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_uc001apf.3_Missense_Mutation_p.L1566F|RERE_uc001apd.3_Missense_Mutation_p.L1012F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1566					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438000														14			15		0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														38			4		0	0	0.009096	0	0
BC067347	0	broad.mit.edu	37	17	20744483	20744483	+	RNA	SNP	A	G	G	rs9906250	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:20744483A>G	uc010crb.2	+	0		c.143A>G								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		GCCTGAGCCCAAGCCGGGGCC	0.751000														14			3		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	T	T	rs7146961	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:106993798C>T	uc021ser.1	-	234		c.9455_splice	c.e234+1							Parts of antibodies, mostly variable regions.																		TCACACTGACCTCCCCTCACT	0.587000														91			5		0	0	0.001168	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474561	102474561	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	uc001yks.2	+	28	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1955	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587000														14			18		4.35082e-09	4.8009e-09	0.010504	1	0
ZNF845	91664	broad.mit.edu	37	19	53848837	53848837	+	Silent	SNP	C	T	T	rs56683540	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:53848837C>T	uc010ydv.1	+	2	211	c.94C>T	c.(94-96)Cta>Tta	p.L32L	ZNF845_uc010ydw.1_Silent_p.L32L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGAGGACTCTATACAGGGA	0.473000														82			4		0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5222929	5222929	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	uc003jdl.3	+	10	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R545C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R545C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368000														20			14		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166983	140166983	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	uc003lhb.2	+	0	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHAC2_uc003lha.2_Missense_Mutation_p.A370T|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A370T	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	385					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527000														39			13		0	0	0.013537	0	0
RP1L1	94137	broad.mit.edu	37	8	10470654	10470654	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	uc003wtc.3	-	3	1183	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	318					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662000														46			44		0	0	0.013114	0	0
EPHA8	2046	broad.mit.edu	37	1	22924293	22924293	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	uc001bfx.1	+	10	2180	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A685G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662000														55			68		0	0	0.014410	0	0
MICB	4277	broad.mit.edu	37	6	31473467	31473467	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	uc003ntn.4	+	1	260	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_uc011dnm.2_Silent_p.E16E|MICB_uc021yuq.1_Silent_p.E16E|MICB_uc003nto.4_Silent_p.E48E	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557000														16			23		0	0	0.003954	0	0
ZNF536	9745	broad.mit.edu	37	19	31040264	31040264	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	uc002nsu.1	+	3	3876	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A	ZNF536_uc010edd.1_Silent_p.A1246A	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632000														13			10		0	0	0.006214	0	0
HRG	3273	broad.mit.edu	37	3	186383868	186383868	+	Silent	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	uc003fqq.3	+	0	71	c.48G>A	c.(46-48)tcG>tcA	p.S16S		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	16					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.S16L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468000														36			10		0	0	0.006214	0	0
SLC2A9	56606	broad.mit.edu	37	4	9987317	9987317	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	uc003gmc.3	-	3	572	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SLC2A9_uc003gmd.3_Missense_Mutation_p.R142C	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	171					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGATGAAGCGTCCCACGATG	0.517000														26			12		0	0	0.013537	0	0
PCNX	22990	broad.mit.edu	37	14	71444691	71444691	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	uc001xmo.2	+	5	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_uc001xmn.4_Missense_Mutation_p.S546F|PCNX_uc010are.1_Missense_Mutation_p.S546F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			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)		CGACCTAAATCTTCTAGCGTA	0.468000														19			20		0	0	0.012319	0	0
MUC7	4589	broad.mit.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	A	A	rs145866670		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	uc011cat.2	+	3	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_uc011cau.2_Missense_Mutation_p.R358Q|MUC7_uc003hfj.3_Missense_Mutation_p.R358Q	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358000														22			13		0	0	0.013537	0	0
LRRC59	55379	broad.mit.edu	37	17	48465454	48465454	+	Missense_Mutation	SNP	G	A	A	rs140038553		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	uc002iqt.3	-	4	705	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA.	157						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527000														40			70		0	0	0.014410	0	0
COL4A4	1286	broad.mit.edu	37	2	227876966	227876966	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	uc021vxr.1	-	43	4365	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_uc021vxs.1_Missense_Mutation_p.V1419I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1422	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567000														28			14		0	0	0.002450	0	0
BC067347	0	broad.mit.edu	37	17	20744472	20744472	+	RNA	SNP	T	G	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:20744472T>G	uc010crb.2	+	0		c.132T>G								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		TACACCCTGGTGCCTGAGCCC	0.746000														15			3		0	0	0.004672	0	0
LRRC32	2615	broad.mit.edu	37	11	76371628	76371628	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	uc001oxq.4	-	2	1252	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_uc001oxr.4_Missense_Mutation_p.H337N|LRRC32_uc010rsf.2_Missense_Mutation_p.H337N	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	337						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587000														16			9		0.00448238	0.00462697	0.004482	1	0
IPO9	55705	broad.mit.edu	37	1	201824023	201824023	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	uc001gwz.3	+	7	933	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	295					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.W295L(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448000														50			10		0	0	0.008291	0	0
SPNS3	201305	broad.mit.edu	37	17	4356345	4356345	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	uc002fxt.3	+	7	1002	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_uc002fxu.3_Missense_Mutation_p.V193I	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	320					lipid transport|transmembrane transport	integral to membrane		p.V320I(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572000														16			32		0	0	0.013726	0	0
LTA4H	4048	broad.mit.edu	37	12	96410892	96410892	+	Splice_Site	SNP	C	G	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	uc001ten.1	-	10	945	c.877_splice	c.e10-1	p.V293_splice	LTA4H_uc010suy.1_Splice_Site_p.V255_splice|LTA4H_uc010suz.1_Splice_Site_p.V255_splice|LTA4H_uc010sva.1_Splice_Site|LTA4H_uc009ztj.3_5'Flank	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	293					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGTGCAATGACCTAAAGAAAA	0.299000														19			23		0	0	0.003954	0	0
FAM86FP	653113	broad.mit.edu	37	12	8385008	8385008	+	RNA	SNP	C	T	T	rs117171292	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:8385008C>T	uc010sgk.2	-	4		c.780G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCAAACATTCCAGTCCAATGA	0.428000														10			3		0	0	0.004672	0	0
GRIN3B	116444	broad.mit.edu	37	19	1004802	1004802	+	Silent	SNP	C	T	T	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	uc002lqo.1	+	2	1302	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	434					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGATCCAGACGAAGACGGGC	0.677000														68			4		0	0	0.009096	0	0
TTLL3	26140	broad.mit.edu	37	3	9870897	9870897	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	uc003btg.3	+	9	1848	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	TTLL3_uc003btd.4_Missense_Mutation_p.V519M|TTLL3_uc003btc.2_Missense_Mutation_p.V102M|TTLL3_uc003btf.4_Missense_Mutation_p.V190M|TTLL3_uc010hco.1_Missense_Mutation_p.V394M|TTLL3_uc003bth.4_Missense_Mutation_p.V246M|TTLL3_uc011atj.2_Missense_Mutation_p.V394M|TTLL3_uc003btj.4_Missense_Mutation_p.V246M|TTLL3_uc003bti.4_Missense_Mutation_p.V246M	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	458	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617000														20			30		0	0	0.007291	0	0
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	uc003lyu.2	+	1	432	c.94G>A	c.(94-96)Gtc>Atc	p.V32I		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488000										TCGA Ovarian(5;0.080)				30			21		0	0	0.014323	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				3			5		0	0	0.001168	0	0
FRAS1	80144	broad.mit.edu	37	4	79387412	79387412	+	Silent	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	uc003hlb.2	+	49	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2359					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547000														50			21		0	0	0.005443	0	0
SAG	6295	broad.mit.edu	37	2	234235841	234235841	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	uc002vuh.2	+	6	898	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_uc010zmq.1_Missense_Mutation_p.K36N	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	170					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552000														45			62		0	0	0.014410	0	0
OR2V2	285659	broad.mit.edu	37	5	180582042	180582042	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	uc011dhj.2	+	0	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	34			A -> V (in dbSNP:rs17617270).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537000														75			35		0	0	0.004878	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729980	106729980	+	Silent	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:106729980C>T	uc001tln.3	+	7	1305	c.1131C>T	c.(1129-1131)ggC>ggT	p.G377G		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	377										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TACTTGAAGGCATGAACAAAG	0.453000														31			3		0	0	0.004672	0	0
TDG	6996	broad.mit.edu	37	12	104374741	104374741	+	Splice_Site	SNP	G	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	uc001tkg.3	+	4	701	c.478_splice	c.e4+1	p.W160_splice	TDG_uc009zuk.3_Splice_Site_p.W156_splice|TDG_uc010swi.2_Splice_Site_p.W17_splice|TDG_uc010swj.2_Splice_Site	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	160					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318000								Base excision repair (BER), DNA glycosylases						11			28		3.1745e-13	3.56435e-13	0.008361	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140256611	140256611	+	Silent	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140256611C>T	uc003lic.2	+	0	1681	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.Y518Y	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	532	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.692000														119			50		0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53848845	53848845	+	Silent	SNP	G	A	A	rs57319493	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:53848845G>A	uc010ydv.1	+	2	219	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF845_uc010ydw.1_Silent_p.R34R	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTCTATACAGGGACGTGATGC	0.478000														78			4		0	0	0.009096	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260408	44260408	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	uc010xcy.1	-	7	1404	c.836C>T	c.(835-837)tCg>tTg	p.S279L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S90L|ST8SIA5_uc002lcj.1_Missense_Mutation_p.S243L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S212L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	243					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607000														5			4		0	0	0.009096	0	0
VPS53	55275	broad.mit.edu	37	17	556535	556535	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:556535C>T	uc010cjo.2	-	6	751	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VPS53_uc002frk.3_Intron|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.E173K|VPS53_uc002frn.2_Missense_Mutation_p.E202K|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	202					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GTTTACCTTTCGGAAAGCTGC	0.483000														84			4		0	0	0.009096	0	0
RUNX3	864	broad.mit.edu	37	1	25228881	25228881	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	uc009vrj.3	-	6	1268	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	RUNX3_uc001bjq.3_Missense_Mutation_p.P327L|RUNX3_uc010oen.2_Missense_Mutation_p.P274L|RUNX3_uc001bjr.3_Missense_Mutation_p.P341L|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	327	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692000														30			8		0	0	0.006214	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851503	47851503	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	uc003tny.2	-	49	7527	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.T225M	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582000														20			7		0	0	0.003080	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	C	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000														4			3		0	0	0.004672	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217005	1217005	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	uc003jbw.4	+	7	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A373V(2)|p.P372P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622000														116			49		0	0	0.014410	0	0
MST1P9	11223	broad.mit.edu	37	1	17085590	17085595	+	In_Frame_Del	DEL	GCGCTG	-	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:17085590_17085595delGCGCTG	uc010ock.2	-	8	1126_1131	c.1126_1131delCAGCGC	c.(1126-1131)cagcgcdel	p.QR376del	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.K375N(1)|p.Q376_R377delQR(1)|p.Q366_R367delQR(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CAGCGGACCAGCGCTGGCACTGGACA	0.704													---	102	---	---	10	---					
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	uc002hgg.3	+	8	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.N339fs	NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	339					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	8	---	---	15	---					
