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
FUT8	2530	broad.mit.edu	37	14	66096323	66096323	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:66096323A>T	ENST00000360689.5	+	6	2323	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	FUT8_ENST00000394586.2_Splice_Site_p.Q199L|FUT8_ENST00000358307.2_Splice_Site_p.Q70L|FUT8_ENST00000557164.1_Splice_Site_p.Q36L|FUT8_ENST00000394585.1_Splice_Site_p.Q199L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	199					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACATATCTTCAGGTAAGAAGG	0.383000													16	30					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645034	87645034	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:87645034A>G	ENST00000320005.5	-	11	1313	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAAGAGTTGAAAAACAATTT	0.353000													24	20					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021463	132021463	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:132021463C>T	ENST00000356920.5	+	15	2529	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	812	Actin-like.						ATP binding										CCCCTGAACCCCAAGGCCAAC	0.602000													24	97					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	422	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572000													29	27					1.56442e-22	1.74847e-22	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993967	140993967	+	Silent	SNP	T	T	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:140993967T>A	ENST00000285879.4	+	4	1063	c.777T>A	c.(775-777)acT>acA	p.T259T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	259							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502000										HNSCC(15;0.026)			75	24					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46274858	46274858	+	Missense_Mutation	SNP	C	C	A	rs145245565		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:46274858C>A	ENST00000600757.1	-	11	2270	c.1583G>T	c.(1582-1584)cGg>cTg	p.R528L	DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000591530.1_RNA			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	533					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAACTCCATCCGCTCCTGCAA	0.677000													7	21					2.0095e-06	2.12114e-06	1	1	0
GGT5	2687	broad.mit.edu	37	22	24621346	24621346	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24621346C>A	ENST00000327365.4	-	10	1786	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	GGT5_ENST00000418439.2_Missense_Mutation_p.R381M|GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	457					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGCACCTTCCGGGAGC	0.617000													36	47					3.76114e-14	4.1427e-14	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186014932	186014932	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:186014932A>G	ENST00000271588.4	+	41	6646	c.6417A>G	c.(6415-6417)aaA>aaG	p.K2139K	HMCN1_ENST00000367492.2_Silent_p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGGTTAAAAGACGGCCACC	0.393000													4	52					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985952	42985952	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:42985952A>G	ENST00000326974.4	+	5	712	c.517A>G	c.(517-519)Aag>Gag	p.K173E	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	173					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCTGTACAAAGGTCTGCTC	0.448000													18	104					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333727	41333727	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:41333727G>A	ENST00000342595.2	+	2	1477	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	NYX_ENST00000378220.1_Missense_Mutation_p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	341	LRRCT.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GTGGTGCTGCGACTGCCGTCT	0.706000													10	17					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410783	23410783	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:23410783T>C	ENST00000379361.4	+	3	2008	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	383	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCATGTACCTGGTCACCTTT	0.473000													28	51					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109290	21109290	+	Silent	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:21109290C>A	ENST00000320704.3	-	1	560	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCGGAGCAGTGGGCCAC	0.567000													21	28					3.62473e-10	3.93542e-10	1	1	0
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:7578460A>T	ENST00000420246.2	-	5	602	c.470T>A	c.(469-471)gTc>gAc	p.V157D	TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D	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.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(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*21(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)		CATGGCGCGGACGCGGGTGCC	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)			49	11					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125597328	125597328	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:125597328C>T	ENST00000518547.1	-	6	933	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	MTSS1_ENST00000378017.3_Splice_Site_p.G154R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	154	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373000													52	90					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070591	32070591	+	RNA	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr16:32070591G>A	ENST00000566806.1	-	0	499																											GAAGCCTGGGGCCTCAGTGAA	0.597000													14	27					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	RNA	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343000													3	55					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748762	126748762	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:126748762G>A	ENST00000393409.2	+	27	4916	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1616H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1639					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGCTCGCGCACGCCCATG	0.716000													3	44					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224013	248224013	+	Silent	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:248224013T>C	ENST00000359959.3	+	1	30	c.30T>C	c.(28-30)gaT>gaC	p.D10D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAACTGATTTCATCTTAT	0.388000													16	204					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101424	3101424	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:3101424C>T	ENST00000381951.1	+	1	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGGGGTCGGCGTTTTCTCTT	0.428000													154	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590358	179590358	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:179590358G>C	ENST00000589042.1	-	71	20797	c.20573C>G	c.(20572-20574)tCc>tGc	p.S6858C	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6541	Ig-like 50.						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)			GTTCAGTTTGGAGACAAATCT	0.433000													18	35					0	0	1	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782965	27782965	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:27782965G>C	ENST00000359465.4	+	1	144	c.144G>C	c.(142-144)caG>caC	p.Q48H		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	48					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TGCTGAAGCAGGTCCACCCCG	0.537000													18	147					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117282521	117282521	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:117282521C>T	ENST00000278935.3	+	32	4321	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1392					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGCAGCTCCGGCTCCTACA	0.597000													7	133					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57678580	57678580	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:57678580C>T	ENST00000311128.5	-	1	236	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		GAGAAGCTGTCCCAGCGCAGC	0.746000													4	8					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													10	81					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	114					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961277	51961277	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:51961277T>C	ENST00000321424.3	-	1	431	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	122	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGAAAGAAATATGACCCCTT	0.498000													55	27					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896315	151896315	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:151896315C>T	ENST00000361201.4	-	0	415					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						ACTTCCTTGACGGGTCCCTGT	0.537000													38	46					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352347	10352347	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:10352347C>T	ENST00000255381.2	-	31	4309	c.4199G>A	c.(4198-4200)cGt>cAt	p.R1400H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1400					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCCTGCAGACGCTGGGCTAG	0.463000													8	16					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958524	53958524	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:53958524C>T	ENST00000454407.1	+	0	1216							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATCAGAAGCGAAACCTAGC	0.408000													50	31					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969527	240969527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:240969527A>G	ENST00000402971.2	-	1	379	c.320T>C	c.(319-321)cTg>cCg	p.L107P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTGCACACCAGGGAGCTGAA	0.617000													11	17					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								24	36					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882243	108882243	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr13:108882243C>T	ENST00000375898.3	+	2	978	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	226						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCACATATGGCCAGCACTTTA	0.383000													17	112					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383000													29	38					7.41945e-09	7.94195e-09	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398000													18	202					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109773620	109773620	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:109773620G>A	ENST00000369923.4	+	5	579	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SARS_ENST00000234677.2_Missense_Mutation_p.G190R			P49591	SYSC_HUMAN	seryl-tRNA synthetase	190					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CGTGGTGGCTGGGAGTCGAGG	0.418000													36	33					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294434	31294434	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:31294434G>A	ENST00000542188.1	-	27	4833	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M|TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1468					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCCATTCCGTCGTCAATTG	0.488000													13	136					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17653073	17653073	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCAGAGCCTCGTGTTTGGGG	0.627000													64	82					0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268157	16268157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:16268157G>A	ENST00000593154.2	+	8	1143	c.612G>A	c.(610-612)tgG>tgA	p.W204*	HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	204						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGAAACTCTGGAGGAGCCTCA	0.562000													16	32					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40761013	40761013	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:40761013G>A	ENST00000216194.7	+	12	1377	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	441					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTCCCAGTTGGATCATTTACT	0.517000													5	83					0	0	1	0	0
LAGE3	8270	broad.mit.edu	37	X	153707094	153707094	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:153707094C>A	ENST00000357360.4	-	1	502	c.161G>T	c.(160-162)aGg>aTg	p.R54M	LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	54							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGACCCCCTGGCCGCAGA	0.721000													3	12					0.115264	0.116801	1	1	0
KRT15	3866	broad.mit.edu	37	17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393974.3_Missense_Mutation_p.R37H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602000													6	58					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547000													4	64					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24466846	24466846	+	Silent	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24466846G>A	ENST00000398319.2	+	17	2713	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CABIN1_ENST00000405822.2_Silent_p.E726E|CABIN1_ENST00000263119.5_Silent_p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	776					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTCAGGTGAGGCTGCCGCCA	0.582000													3	31					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109675033	109675033	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr12:109675033C>T	ENST00000338432.7	+	34	4629	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1504					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAACTTAACCGGATGCGTAA	0.542000													31	62					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124846	26124846	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:26124846G>A	ENST00000602637.1	+	1	416	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	129					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGGCCAAGGGCAAGTGATTT	0.542000													17	38					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206628528	206628528	+	Silent	SNP	C	C	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:206628528C>G	ENST00000360409.3	+	13	2966	c.2175C>G	c.(2173-2175)ggC>ggG	p.G725G	AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Silent_p.G725G|NRP2_ENST00000357118.4_Silent_p.G725G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	725	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCACGGGCGGCCGCGGGGTGG	0.692000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955415	102955415	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:102955415G>C	ENST00000311734.2	+	3	519	c.180G>C	c.(178-180)caG>caC	p.Q60H	IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000473175.1_3'UTR	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	60	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCACTCAGGAAAGAAATC	0.393000													50	118					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66243323	66243323	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:66243323C>T	ENST00000349459.6	+	7	1307	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	365						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCGGGCACGTCCATGGCTACC	0.711000													12	12					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219922332	219922332	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:219922332C>T	ENST00000295731.6	-	2	399	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCCTCGTCCCAGCCCTCG	0.627000													14	17					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:38938452G>A	ENST00000450244.1	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAGGATGCGGAATACCACT	0.473000													4	25					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40574112	40574112	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:40574112T>G	ENST00000339296.5	+	5	1303	c.851T>G	c.(850-852)aTt>aGt	p.I284S	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATCAGAGAATTCATACTGGG	0.433000													10	23					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34029798	34029798	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:34029798C>T	ENST00000538487.2	-	4	1187	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000544773.2_Silent_p.V79V|GRM4_ENST00000609222.1_Silent_p.V115V|GRM4_ENST00000374181.4_Silent_p.V248V|GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGGCGATGCACACGCCCCCTG	0.642000													15	28					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28206168	28206168	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:28206168C>T	ENST00000373921.3	+	3	253	c.249C>T	c.(247-249)ccC>ccT	p.P83P	THEMIS2_ENST00000328928.7_Silent_p.P83P|THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		ACTTCACCCCCCTCAACACCC	0.617000													4	22					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129189971	129189971	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:129189971C>T	ENST00000540052.1	+	12	5040	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1666					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTCAGCTGCTGACCCCTGC	0.617000													53	88					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860099	132860099	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:132860099C>T	ENST00000434551.1	+	0	671					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTTTGGTGGCCAAGCATCAG	0.433000													18	48					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157237	75157237	+	Missense_Mutation	SNP	A	A	G	rs149108334		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:75157237A>G	ENST00000342232.4	-	4	1472	c.1432T>C	c.(1432-1434)Tcc>Ccc	p.S478P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	478					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGGGAGGAAGCAGGAGAG	0.537000													4	88					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:168281192G>A	ENST00000366806.2	+	6	1034	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383000			T	MLL	AL								10	102					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303781	107303781	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:107303781G>T	ENST00000265715.3	+	3	429	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	69					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAGACTCTTGTGCCCATCTT	0.468000									Pendred syndrome				4	114					0.150653	0.150653	1	1	0
PMS2	5395	broad.mit.edu	37	7	6045657	6045657	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:6045657T>G	ENST00000265849.7	-	2	134	c.29A>C	c.(28-30)gAa>gCa	p.E10A	PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	10					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTAGCAGGTTCTGTACTAGA	0.388000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	139					0	0	1	0	0
OAZ1	4946	broad.mit.edu	37	19	2273072	2273072	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:2273072T>C	ENST00000583542.4	+	6	750	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	OAZ1_ENST00000582888.4_Missense_Mutation_p.F216L|OAZ1_ENST00000588673.2_Missense_Mutation_p.F247L|OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000602676.2_Missense_Mutation_p.F218L			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		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)	L-Ornithine(DB00129)	GGCCTACACGTTCGAGAGAGA	0.637000													5	5					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23283320	23283320	+	RNA	SNP	C	C	A	rs149049629	by1000genomes	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:23283320C>A	ENST00000560464.1	-	0	5097																											CAGCGTGTGCCTTTTCCTTCC	0.453000													5	39					0.014758	0.0151569	1	1	0
KIAA0020	9933	broad.mit.edu	37	9	2829902	2829902	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr9:2829902C>T	ENST00000397885.2	-	8	930	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	242	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTCCTCACGTGGCCTTTA	0.448000													29	99					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55238765	55238765	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr18:55238765C>T	ENST00000262093.5	-	4	473	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FECH_ENST00000382873.3_Missense_Mutation_p.A114T|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	108					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ATGAATGGTGCCAGCTTACTA	0.423000													5	63					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92538511	92538511	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:92538511A>T	ENST00000298047.6	+	10	9106	c.9089A>T	c.(9088-9090)gAt>gTt	p.D3030V	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTGTGTGATCAGGTGAGA	0.423000										TCGA Ovarian(4;0.039)			5	9					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													3	5	---	---	---	---					
CCNG2	901	broad.mit.edu	37	4	78080651	78080652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:78080651_78080652insA	ENST00000316355.5	+	3	626_627	c.270_271insA	c.(271-273)atgfs	p.M91fs	CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.M91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	91					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTGGCTCTTATGAAGGTATT	0.356													13	73	---	---	---	---					
COL11A2	1302	broad.mit.edu	37	6	33159977	33159979	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:33159977_33159979delAGG	ENST00000341947.2	-	1	266_268	c.39_41delCCT	c.(37-42)ctccta>cta	p.13_14LL>L	COL11A2_ENST00000374713.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000395194.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000357486.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374712.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374714.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000395197.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000361917.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374708.4_In_Frame_Del_p.13_14LL>L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	13					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCAGAGGTAGGAGGAGGAGGA	0.675													3	6	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													4	7	---	---	---	---					
LINC00599	157627	broad.mit.edu	37	8	9760970	9760973	+	RNA	DEL	GAGA	GAGA	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:9760970_9760973delGAGA	ENST00000385275.1	-	0	9_12					NR_029668.1																						TGTGAACACGGAGAGAGAGGCCTT	0.520													8	10	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736					NR_027270.1																						CTCTGTGCTTTCTGATGTGCTGCT	0.407													5	3	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						45	29	---	---	---	---					
