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
SCN3A	6328	broad.mit.edu	37	2	166032861	166032861	+	Missense_Mutation	SNP	C	C	T	rs139769668	byFrequency	TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:166032861C>T	ENST00000360093.3	-	3	535	c.44G>A	c.(43-45)cGc>cAc	p.R15H	SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H|SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	15						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R15H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAAAAAGGCGGAAGCTTTC	0.428000													16	40					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924092	44924092	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:44924092G>T	ENST00000395699.2	-	1	868	c.856C>A	c.(856-858)Cag>Aag	p.Q286K		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	286					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TTATCCCTCTGTCGTTCCTGG	0.582000													35	144					4.3181e-19	5.26808e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179422793	179422793	+	Silent	SNP	A	A	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:179422793A>C	ENST00000589042.1	-	328	87512	c.87288T>G	c.(87286-87288)acT>acG	p.T29096T	TTN_ENST00000342992.6_Silent_p.T26528T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T20156T|TTN_ENST00000591111.1_Silent_p.T27455T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T20031T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.T20223T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27455	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTCAGCAGTAATTTCGG	0.433000													8	51					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44171239	44171239	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr21:44171239T>A	ENST00000291539.6	+	9	727	c.667T>A	c.(667-669)Tgt>Agt	p.C223S	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Missense_Mutation_p.C163S|PDE9A_ENST00000398224.3_Missense_Mutation_p.C96S|PDE9A_ENST00000398225.3_Missense_Mutation_p.C182S|PDE9A_ENST00000398227.3_Missense_Mutation_p.C63S|PDE9A_ENST00000398229.3_Missense_Mutation_p.C89S|PDE9A_ENST00000539837.1_Missense_Mutation_p.C95S|PDE9A_ENST00000398236.3_Missense_Mutation_p.C137S|PDE9A_ENST00000335440.6_Missense_Mutation_p.C121S|PDE9A_ENST00000380328.2_Missense_Mutation_p.C170S|PDE9A_ENST00000398234.3_Missense_Mutation_p.C122S|PDE9A_ENST00000349112.3_Missense_Mutation_p.C95S|PDE9A_ENST00000328862.6_Missense_Mutation_p.C197S|PDE9A_ENST00000398232.3_Missense_Mutation_p.C156S	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	223					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CAACTGCCCCTGTAAGTACAG	0.512000													30	354					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237548	140237548	+	Missense_Mutation	SNP	A	A	G	rs630162	by1000genomes	TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr5:140237548A>G	ENST00000307360.5	+	1	1915	c.1915A>G	c.(1915-1917)Act>Gct	p.T639A	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATGAGACTGACTCGCC	0.647000													3	34					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124802687	124802687	+	Splice_Site	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr10:124802687G>A	ENST00000358776.4	+	6	821	c.807_splice	c.e6+1	p.K269_splice	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Splice_Site_p.K167_splice	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	269					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	AAAATGTCAAGGTGGGTATCG	0.448000													6	29					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098989	50098989	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr19:50098989C>G	ENST00000418929.2	+	4	1409	c.1397C>G	c.(1396-1398)gCa>gGa	p.A466G		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	214	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGGGGCAGGCACAGGACTTG	0.701000													7	35					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107390	60107390	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:60107390G>C	ENST00000300182.4	+	3	471	c.406G>C	c.(406-408)Gtg>Ctg	p.V136L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	136						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CTGCCTAGCTGTGCTCACTGC	0.493000													31	144					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865427	118865427	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr3:118865427G>A	ENST00000295622.1	+	1	431	c.391G>A	c.(391-393)Gat>Aat	p.D131N		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	131										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGAACAGAGTGATGGTCAGGT	0.468000													9	35					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77975262	77975262	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:77975262G>A	ENST00000354212.4	-	8	1455	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	MAGI2_ENST00000536571.1_Missense_Mutation_p.P233L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P401L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P238L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P401L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	401						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCCTGCAGGGGCTTTGTTCC	0.448000													14	60					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872693	54872693	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr19:54872693C>T	ENST00000391743.3	-	2	420	c.140G>A	c.(139-141)aGa>aAa	p.R47K	LAIR1_ENST00000474878.1_Missense_Mutation_p.R64K|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.R65K|LAIR1_ENST00000313038.6_Missense_Mutation_p.R58K|LAIR1_ENST00000434277.2_Missense_Mutation_p.R64K|LAIR1_ENST00000391742.2_Missense_Mutation_p.R65K			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	65	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTATGTGGATCTACTCTCCCT	0.557000													18	194					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49204387	49204387	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr20:49204387C>T	ENST00000327979.2	-	21	3103	c.2692G>A	c.(2692-2694)Gac>Aac	p.D898N	FAM65C_ENST00000535356.1_Missense_Mutation_p.D902N|FAM65C_ENST00000462842.1_5'UTR|FAM65C_ENST00000045083.2_Missense_Mutation_p.D898N			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	898										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTCCAGGTCAGACTGGCAC	0.587000											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	81					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816354	6816354	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:6816354C>T	ENST00000332601.3	-	1	774	c.586G>A	c.(586-588)Gat>Aat	p.D196N		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGACATATCAGTGCATGAG	0.468000													7	97					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692425	135692425	+	Silent	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr5:135692425C>T	ENST00000513104.1	-	2	933	c.651G>A	c.(649-651)tcG>tcA	p.S217S	TRPC7_ENST00000426057.2_Silent_p.S217S|TRPC7_ENST00000355180.3_Silent_p.S217S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	217					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTTCATGCGCGAGCGCGAGT	0.607000													16	55					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140156559	140156559	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:140156559G>A	ENST00000480552.1	-	3	326	c.230C>T	c.(229-231)aCc>aTc	p.T77I	MKRN1_ENST00000437223.2_Silent_p.N27N|MKRN1_ENST00000474576.1_Silent_p.N229N|MKRN1_ENST00000255977.2_Silent_p.N293N|MKRN1_ENST00000443720.2_Silent_p.N293N			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	112							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GCTCACTGGGGTTGGCTTTCT	0.542000													10	45					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995989	57995989	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:57995989G>A	ENST00000316770.2	-	1	401	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGCCATGATCGCCAAGAGGAA	0.587000													16	73					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335691	57335691	+	Silent	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr19:57335691C>T	ENST00000326441.9	-	4	696	c.333G>A	c.(331-333)ccG>ccA	p.P111P	PEG3_ENST00000423103.2_Silent_p.P111P|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	111	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACAGTTCTCCGGCTTTTTTG	0.542000													17	89					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554470	123554470	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chrX:123554470C>A	ENST00000422452.2	-	25	4736	c.4673G>T	c.(4672-4674)gGa>gTa	p.G1558V	TENM1_ENST00000371130.3_Missense_Mutation_p.G1551V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGGTGGGTTCCATTTACAGT	0.458000													9	78					1.12685e-05	1.27292e-05	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5373653	5373653	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:5373653T>A	ENST00000380219.1	+	1	916	c.916T>A	c.(916-918)Tct>Act	p.S306T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTTTATTCTCTCTGCCTCA	0.418000													4	32					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708490	141708490	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:141708490C>G	ENST00000475668.2	+	3	366	c.312C>G	c.(310-312)gaC>gaG	p.D104E	MGAM_ENST00000549489.2_Missense_Mutation_p.D104E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	104	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATCCCTGACCAGCCGCCAA	0.383000													4	33					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61333728	61333728	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:61333728G>T	ENST00000402291.1	+	14	1783	c.1542G>T	c.(1540-1542)aaG>aaT	p.K514N	KIAA1841_ENST00000453873.1_Missense_Mutation_p.K514N|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K514N|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K514N	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	514										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTGATGAAAAGGGTATAGAAT	0.348000													4	26					0.00116845	0.00122888	1	1	0
TP53INP2	58476	broad.mit.edu	37	20	33297255	33297255	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr20:33297255A>C	ENST00000374810.3	+	4	729	c.340A>C	c.(340-342)Acc>Ccc	p.T114P	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Missense_Mutation_p.T114P	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	114						nucleus				endometrium(1)|urinary_tract(1)	2						CACCGGCAGCACCATAGTGCT	0.716000													15	65					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127504763	127504763	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr10:127504763G>A	ENST00000368778.3	-	3	323	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	UROS_ENST00000368786.1_Missense_Mutation_p.P44S|UROS_ENST00000368774.1_Missense_Mutation_p.P44S|UROS_ENST00000368797.4_Missense_Mutation_p.P44S			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	44					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	p.P44S(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GAGAAACTGGGAAGAGACAAA	0.413000													4	20					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937285	67937285	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chrX:67937285C>T	ENST00000252336.6	+	5	661	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	STARD8_ENST00000374599.3_Missense_Mutation_p.R177C|STARD8_ENST00000374597.3_Missense_Mutation_p.R97C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	97					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.R97C(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTTGCCAGGCCGTGCCCCCAG	0.647000													10	42					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175312	143175312	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:143175312A>T	ENST00000408916.1	+	1	347	c.347A>T	c.(346-348)cAc>cTc	p.H116L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AACATCACACACTCCACCTTC	0.522000													14	50					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143623	91143623	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr10:91143623G>A	ENST00000371809.3	+	2	633	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	185							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CGCAATCACCGTCTATCGCCT	0.453000													12	105					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345744	11345744	+	Silent	SNP	C	C	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr1:11345744C>G	ENST00000376810.5	+	2	899	c.573C>G	c.(571-573)ctC>ctG	p.L191L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	191					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCATCATCCTCATCACTTTTG	0.562000													15	58					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097403	32097403	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr6:32097403C>T	ENST00000375156.3	-	2	425	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	52					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TGGATCTGGGCTTACTTCCAG	0.483000													9	73					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868507	73868507	+	Silent	SNP	C	C	A	rs149442492	byFrequency	TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:73868507C>A	ENST00000272425.3	-	2	398	c.249G>T	c.(247-249)acG>acT	p.T83T		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	83	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CCACATACTCCGTCCAGGGTT	0.547000													34	128					8.53417e-09	1.00112e-08	1	1	0
GJA9	81025	broad.mit.edu	37	1	39340942	39340942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr1:39340942G>A	ENST00000454994.2	-	2	1105	c.829C>T	c.(829-831)Cga>Tga	p.R277*	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Nonsense_Mutation_p.R277*|GJA9_ENST00000357771.3_Nonsense_Mutation_p.R277*			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	277					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GAAGGGAGTCGCTTCAGTGAA	0.398000													5	27					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501526	31501526	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr16:31501526C>G	ENST00000330498.3	+	13	1786	c.1767C>G	c.(1765-1767)tgC>tgG	p.C589W	C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	589					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAATGGGTGCCCAGAGAGTG	0.587000													6	42					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112487088	112487088	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr5:112487088C>A	ENST00000302475.4	-	2	652	c.89G>T	c.(88-90)gGa>gTa	p.G30V	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.G220V	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	30					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CACTATATCTCCCTTTAGTGA	0.473000													3	16					0.004672	0.00483037	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098920	11098920	+	RNA	SNP	A	A	G	rs78230864		TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr21:11098920A>G	ENST00000470054.1	-	0	5									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gggagataccagagaccctaa	0.572000													3	23					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50302925	50302925	+	Silent	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr22:50302925G>A	ENST00000330817.5	-	6	1008	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	245					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGACAGTGTTGTACCAAAGCA	0.527000													12	85					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475597	120475597	+	Silent	SNP	G	G	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr9:120475597G>T	ENST00000355622.6	+	3	1292	c.1191G>T	c.(1189-1191)ggG>ggT	p.G397G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G357G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	397					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGATTTTGGGACAACCAGCC	0.393000													4	21					0.00024832	0.000265746	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159655177	159655177	+	Silent	SNP	C	C	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr6:159655177C>A	ENST00000297267.9	+	11	3833	c.3633C>A	c.(3631-3633)ggC>ggA	p.G1211G	FNDC1_ENST00000340366.6_Silent_p.G1148G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1211						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCCCAGGGGCGGCAAAGACG	0.627000													3	17					0.115264	0.117185	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31021631	31021631	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr20:31021631G>C	ENST00000375687.4	+	12	2054	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	ASXL1_ENST00000306058.5_Missense_Mutation_p.D539H	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	544					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCGGCTTGAAGATCGTCAGTC	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								11	148					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729676	1729676	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr4:1729676G>A	ENST00000313288.4	+	4	653	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	183						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAAGCCGTGGAGGAAAACCT	0.547000													26	115					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62656120	62656120	+	Silent	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:62656120G>A	ENST00000377892.1	+	13	2165	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L	SLC3A2_ENST00000377891.2_Silent_p.L617L|SLC3A2_ENST00000338663.7_Silent_p.L515L|SLC3A2_ENST00000535296.1_Silent_p.L585L|SLC3A2_ENST00000536981.1_Silent_p.L161L|SLC3A2_ENST00000377890.2_Silent_p.L616L|SLC3A2_ENST00000377889.2_Silent_p.L554L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	616					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCCTGAAACTGGAGCCTCACG	0.652000													19	124					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	RBP4_ENST00000371469.2_Missense_Mutation_p.T129M|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582000													28	91					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10019867	10019867	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:10019867G>T	ENST00000256190.8	-	9	1058	c.921C>A	c.(919-921)caC>caA	p.H307Q	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	307					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGGAAGAGAGGTGAATACATT	0.323000													4	23					1.23904e-05	1.37421e-05	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801348	185801348	+	Missense_Mutation	SNP	A	A	G	rs62198466	byFrequency	TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:185801348A>G	ENST00000302277.6	+	4	1819	c.1225A>G	c.(1225-1227)Ata>Gta	p.I409V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	409						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAGGTTAACATAACTATACA	0.388000													3	39					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612237	48612237	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr3:48612237C>A	ENST00000328333.8	-	76	6448	c.6341G>T	c.(6340-6342)gGt>gTt	p.G2114V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2082V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2114	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACCTTAGCACCCTTGAGTCC	0.582000													10	37					7.48243e-07	8.61185e-07	1	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622244	234622244	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr2:234622244G>C	ENST00000373414.3	+	1	607	c.607G>C	c.(607-609)Gac>Cac	p.D203H	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCAATTCAGACCACATGAC	0.458000													18	187					0	0	1	0	0
NSMCE1	197370	broad.mit.edu	37	16	27238081	27238081	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr16:27238081G>A	ENST00000361439.4	-	6	659	c.560C>T	c.(559-561)gCg>gTg	p.A187V	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	187					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GATCTTCACCGCGTCGGGGTA	0.637000													21	101					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65321783	65321783	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr11:65321783C>A	ENST00000301873.5	-	2	668	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	LTBP3_ENST00000322147.4_Missense_Mutation_p.D134Y|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	134	EGF-like 1.|Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCAGTGAAGTCCGGGGGACAC	0.701000													4	24					0.00024832	0.000265746	1	1	0
CCNH	902	broad.mit.edu	37	5	86708497	86708497	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr5:86708497T>C	ENST00000256897.4	-	1	339	c.115A>G	c.(115-117)Aag>Gag	p.K39E	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	39					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AACCTCACCTTCCCGTTGGCC	0.587000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					7	35					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													6	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	G	rs121912654		TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr17:7578461C>G	ENST00000420246.2	-	5	601	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L	TP53_ENST00000455263.2_Missense_Mutation_p.V157L|TP53_ENST00000445888.2_Missense_Mutation_p.V157L|TP53_ENST00000359597.4_Missense_Mutation_p.V157L|TP53_ENST00000413465.2_Missense_Mutation_p.V157L|TP53_ENST00000269305.4_Missense_Mutation_p.V157L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			15	56					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515330	54515330	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr19:54515330G>A	ENST00000252729.2	+	4	1260	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	CACNG6_ENST00000352529.1_Missense_Mutation_p.G153S|CACNG6_ENST00000346968.2_Missense_Mutation_p.G178S	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	224						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCTGGGCTGCGGCGTGGGGGC	0.706000													15	119					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114940327	114940327	+	Silent	SNP	A	A	G			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr1:114940327A>G	ENST00000358465.2	-	20	3410	c.3327T>C	c.(3325-3327)ttT>ttC	p.F1109F	TRIM33_ENST00000369543.2_Silent_p.F1092F|TRIM33_ENST00000450349.2_Silent_p.F741F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1109					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCTGTATAAAGTCTTCAT	0.398000			T	RET	papillary thyroid								6	67					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250043	52250043	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr19:52250043C>T	ENST00000595042.1	-	3	346	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	FPR1_ENST00000304748.4_Missense_Mutation_p.V69M	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	69					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AAGTCAGCCACGGCCAGGTTC	0.552000													7	78					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592143	119592143	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr12:119592143G>A	ENST00000267260.4	+	12	1875	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	496	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGAGAAAGCGCCGGAGAGAC	0.642000													10	17					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138187550	138187557	+	Frame_Shift_Del	DEL	CAACTTGC	CAACTTGC	-			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr3:138187550_138187557delCAACTTGC	ENST00000389567.4	+	13	1548_1555	c.1362_1369delCAACTTGC	c.(1360-1371)tgcgfs	p.CNLP454fs		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	454	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGAGTGCCTGCAACTTGCCGGTGAGTGG	0.529													30	159	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	5	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242466	55242480	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	rs121913438		TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr7:55242466_55242480delGAATTAAGAGAAGCA	ENST00000275493.2	+	19	2413_2427	c.2236_2250delGAATTAAGAGAAGCA	c.(2236-2250)del	p.ELREA746del	EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA	0.474	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	74	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													6	5	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-62-A46U-01A-11D-A24D-08	TCGA-62-A46U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9315db72-db18-46e2-835b-2ffb41028237	054c4e9c-1e21-4b72-bce5-0980c09df0d6	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													5	11	---	---	---	---