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
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	10					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517773	20517773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:20517773G>A	ENST00000375099.3	+	2	803	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	240	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGACACTGCAGCATTGAAACA	0.502000													3	83					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597000													5	136					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81598375	81598375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:81598375C>T	ENST00000394660.2	+	17	3907	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	IL16_ENST00000302987.4_Missense_Mutation_p.R1183C|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.R482C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1183	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.R1183C(1)|p.R1137C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCCATCCTCCGCCAAGCTCG	0.582000													18	108					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798915	39798915	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:39798915G>C	ENST00000248668.4	-	2	1673	c.1674C>G	c.(1672-1674)cgC>cgG	p.R558R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	558						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACACCTTATAGCGGATCATGA	0.657000													6	17					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151362	105151362	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:105151362G>C	ENST00000303694.5	+	3	1279	c.840G>C	c.(838-840)gaG>gaC	p.E280D	CHST11_ENST00000549260.1_Missense_Mutation_p.E275D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	280					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAGTACGAGACACTGGAAG	0.532000													7	10					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7960545	7960545	+	Silent	SNP	G	G	T	rs143317661	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:7960545G>T	ENST00000306708.6	+	2	158	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	19						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTTCAAGGTGCTCAAACCCT	0.627000													3	43					1	1	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70352368	70352368	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr4:70352368T>G	ENST00000305107.6	-	4	1095	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	UGT2B4_ENST00000512583.1_Missense_Mutation_p.N350T|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.N214T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	350					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGCCGAGTATTGAGTCCTAA	0.343000													55	107					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567291	4567291	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:4567291A>T	ENST00000360213.1	+	1	871	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAATCCTCAATCCCATTGT	0.453000													27	23					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21181494	21181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:21181494C>T	ENST00000602326.1	-	24	3843	c.3260G>A	c.(3259-3261)gGt>gAt	p.G1087D	EIF4G3_ENST00000536266.1_Missense_Mutation_p.G685D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1081D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G801D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1087D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1081D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G571D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1081					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTTGCTCCACCACTGCTGCC	0.473000													43	55					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249788	79249788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:79249788G>A	ENST00000374759.3	-	8	1276	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.T298M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	298					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACACAGCAGCGTGCTCAGGGC	0.612000													17	34					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659303	77659303	+	Silent	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr18:77659303C>G	ENST00000316249.3	+	2	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	296					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L296L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741000													3	9					0	0	1	0	0
ANKRA2	57763	broad.mit.edu	37	5	72849256	72849256	+	Silent	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:72849256T>C	ENST00000296785.3	-	8	1519	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	287						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGCTACAGCTAGATCCATAG	0.363000													18	27					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350986	23350986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:23350986C>T	ENST00000338121.5	+	6	2121	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	GZF1_ENST00000542987.1_Missense_Mutation_p.L191F|GZF1_ENST00000377051.2_Missense_Mutation_p.L682F|GZF1_ENST00000544236.1_Missense_Mutation_p.L206F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	682					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGGACACCCTCCTGGCCAC	0.552000													5	52					0	0	1	0	0
AC004702.2	0	broad.mit.edu	37	17	20224797	20224797	+	RNA	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:20224797C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							GGTGGAAAAACAGCGTCGGCA	0.637000													4	104					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170411653	170411653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:170411653G>A	ENST00000453153.2	-	7	1541	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.L399F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	399					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTCTCTAAGTTTCGCAAAA	0.308000													21	23					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063165	41063165	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:41063165C>T	ENST00000352632.3	+	26	5612	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	SPTBN4_ENST00000598249.1_Silent_p.D1842D|SPTBN4_ENST00000595535.1_Silent_p.D1842D|SPTBN4_ENST00000392023.1_Silent_p.D518D|SPTBN4_ENST00000338932.3_Silent_p.D1842D|SPTBN4_ENST00000392025.1_Silent_p.D585D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1842					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTCAGTGACGCCCGAGAGC	0.657000													19	26					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215610535	215610535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:215610535C>T	ENST00000260947.4	-	8	1855	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	BARD1_ENST00000449967.2_Missense_Mutation_p.G430D	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	574	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCCCACTGCCTATAAGTAC	0.393000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	151					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683278	50683278	+	Silent	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:50683278G>T	ENST00000008391.3	+	2	717	c.489G>T	c.(487-489)ctG>ctT	p.L163L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	163							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAGACTCCTGCCAGGGCCCA	0.632000													33	61					3.09479e-21	3.24699e-21	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52553129	52553129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:52553129C>T	ENST00000261839.7	-	10	1404	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	MYO5C_ENST00000443683.2_Missense_Mutation_p.E358K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	415	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAATTCTCTCCACAATGAAG	0.473000													44	62					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	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			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								21	49					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	65					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955789	54955789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:54955789G>A	ENST00000173898.7	+	12	2744	c.2632G>A	c.(2632-2634)Gtc>Atc	p.V878I	TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.V409I|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.V481I|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	878	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACGAGCACAGTCTTCAGTAG	0.567000													24	36					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751659	19751659	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr13:19751659T>C	ENST00000400113.3	-	4	568	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	155					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGAGAGCCGCTCCATGAGCAG	0.587000													35	53					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587386	36587386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:36587386G>A	ENST00000332987.1	-	7	1203	c.781C>T	c.(781-783)Cga>Tga	p.R261*	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Nonsense_Mutation_p.R264*|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	265					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGTACATATCGCCAAGCAATC	0.483000													20	37					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144663399	144663399	+	Splice_Site	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr8:144663399C>T	ENST00000532741.1	-	4	1765	c.1537_splice	c.e4+1	p.V513_splice	EEF1D_ENST00000423316.2_Splice_Site_p.V463_splice|EEF1D_ENST00000528610.1_Splice_Site_p.V73_splice|EEF1D_ENST00000419152.2_Splice_Site_p.V97_splice|EEF1D_ENST00000442189.2_Splice_Site_p.V463_splice|EEF1D_ENST00000395119.3_Splice_Site_p.V97_splice|EEF1D_ENST00000529272.1_Splice_Site_p.V97_splice|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.V97_splice|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Splice_Site_p.V73_splice|EEF1D_ENST00000526838.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCACCGCCACGCAGA	0.692000													5	23					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19027859	19027859	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:19027859A>T	ENST00000354791.3	-	17	1500	c.1259T>A	c.(1258-1260)tTt>tAt	p.F420Y	GPR64_ENST00000379873.2_Missense_Mutation_p.F436Y|GPR64_ENST00000379876.1_Missense_Mutation_p.F412Y|GPR64_ENST00000340581.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379878.3_Missense_Mutation_p.F420Y|GPR64_ENST00000379869.3_Missense_Mutation_p.F436Y|GPR64_ENST00000360279.4_Missense_Mutation_p.F414Y|GPR64_ENST00000356606.4_Missense_Mutation_p.F422Y|GPR64_ENST00000357991.3_Missense_Mutation_p.F433Y|GPR64_ENST00000357544.3_Missense_Mutation_p.F406Y			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	436					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGTGTTTGAAAAGTTCAGCTG	0.398000													46	50					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906452	129906452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:129906452C>T	ENST00000368654.3	-	13	4027	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	MKI67_ENST00000368653.3_Missense_Mutation_p.A858T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1218	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483000													19	80					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95531311	95531311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:95531311A>G	ENST00000343958.4	-	7	3204	c.2981T>C	c.(2980-2982)gTt>gCt	p.V994A	FGD6_ENST00000549499.1_Missense_Mutation_p.V994A|FGD6_ENST00000546711.1_Missense_Mutation_p.V994A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	994	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAATTCTCTAACAACAGCAGC	0.328000													45	67					0	0	1	0	0
ANXA2	302	broad.mit.edu	37	15	60653219	60653219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:60653219C>T	ENST00000396024.3	-	6	437	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ANXA2_ENST00000451270.2_Missense_Mutation_p.G93D|ANXA2_ENST00000421017.2_Missense_Mutation_p.G93D|ANXA2_ENST00000332680.4_Missense_Mutation_p.G111D	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	93					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTCCAGGTGGCCAGATAAGGC	0.398000													3	39					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171094	4171094	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:4171094C>G	ENST00000602147.1	+	7	870	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	CREB3L3_ENST00000595923.1_Silent_p.L298L|CREB3L3_ENST00000078445.2_Silent_p.L299L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Silent_p.L297L			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGTCCCTCTTGGAGCAAC	0.612000													20	32					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71658529	71658529	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:71658529G>A	ENST00000409544.1	+	26	6353	c.5723G>A	c.(5722-5724)gGc>gAc	p.G1908D	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.G848D|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1908D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1908					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTCTTCAGGCAAATCAGTG	0.413000													4	33					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634316	180634316	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:180634316T>A	ENST00000410066.1	-	3	770	c.167A>T	c.(166-168)aAa>aTa	p.K56I		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	56						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGGTGGGATTTGCCGTTGGA	0.567000													14	29					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489408	133489408	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:133489408G>C	ENST00000409261.1	-	17	5718	c.5345C>G	c.(5344-5346)cCt>cGt	p.P1782R	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1782R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P463R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P463R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1782							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTATCTGCAGGGCGCTGGCC	0.587000													31	49					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122399967	122399967	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:122399967C>T	ENST00000288912.4	+	15	3245	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	WDR66_ENST00000397454.2_Silent_p.T797T|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	797							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTATCCCACCTGCATGGTCT	0.498000													18	93					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679845	100679845	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:100679845C>A	ENST00000306151.4	+	3	5212	c.5148C>A	c.(5146-5148)gaC>gaA	p.D1716E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1716	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCCGTTGACAACAGCACAC	0.473000													89	117					3.65056e-27	3.89393e-27	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72396719	72396719	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:72396719C>G	ENST00000359373.5	-	34	5161	c.4310G>C	c.(4309-4311)cGc>cCc	p.R1437P	ARAP1_ENST00000334211.8_Missense_Mutation_p.R1203P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1208P|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1437P|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1131P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1448P|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1192P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1448					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAGACGTTGCGCAGAAGCTG	0.607000													11	24					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634819	122634819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:122634819C>G	ENST00000249284.2	-	1	935	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	290					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCCTAGCACTTTCCCTTTA	0.418000													4	189					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24735546	24735546	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:24735546G>C	ENST00000379068.3	+	9	889	c.846G>C	c.(844-846)gaG>gaC	p.E282D	POLA1_ENST00000379059.3_Missense_Mutation_p.E276D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	276					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGGACAAAGAGAGTGAGCCAG	0.498000													16	24					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400162	138400162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:138400162T>C	ENST00000409968.1	+	21	4082	c.3904T>C	c.(3904-3906)Tac>Cac	p.Y1302H	THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1274H|THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1305H|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCCCTGCTACAGCTGGGT	0.488000													28	74					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872331	237872331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:237872331T>C	ENST00000366574.2	+	69	10392	c.10075T>C	c.(10075-10077)Ttc>Ctc	p.F3359L	RYR2_ENST00000542537.1_Missense_Mutation_p.F3343L|RYR2_ENST00000360064.6_Missense_Mutation_p.F3357L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3359					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTAGATGAGTTCACCACACT	0.463000													8	10					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43101983	43101983	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:43101983C>T	ENST00000452796.2	-	4	769	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DCAKD_ENST00000588499.1_Missense_Mutation_p.A172T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A172T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	172	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACATGGCGGGCCATGCGGGCC	0.642000													17	32					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793418	114793418	+	Silent	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:114793418G>A	ENST00000310346.4	-	9	2142	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TBX5_ENST00000405440.2_Silent_p.G492G|TBX5_ENST00000349716.5_Silent_p.G442G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	492					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCTTGGCACGCCATGAGAGT	0.602000													17	18					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19751681	19751681	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:19751681C>T	ENST00000332710.4	+	5	645	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TBX1_ENST00000329705.7_Silent_p.Y172Y|TBX1_ENST00000359500.3_Silent_p.Y172Y	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTCCAGGTACGCCTTCCACA	0.667000													10	17					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27286489	27286489	+	Splice_Site	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:27286489G>A	ENST00000317338.12	-	9	2201	c.1771_splice	c.e9-1	p.A591_splice	SEZ6_ENST00000442608.3_Splice_Site_p.A591_splice|SEZ6_ENST00000360295.9_Splice_Site_p.A591_splice|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	591	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGCTGCACACGGCTGGAAGGC	0.602000													15	39					0	0	1	0	0
SAT1	6303	broad.mit.edu	37	X	23801978	23801978	+	Silent	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:23801978G>A	ENST00000379270.4	+	3	359	c.180G>A	c.(178-180)ccG>ccA	p.P60P	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379253.3_Silent_p.P60P|SAT1_ENST00000379251.3_Silent_p.P90P	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	60	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CAGAAGTGCCGAAAGAGCACT	0.542000													19	29					0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88679128	88679128	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:88679128C>T	ENST00000372037.2	+	10	1605	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	356	Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGGAAAGCCCGCAATTGCTC	0.483000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				3	47					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975239	32975239	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:32975239G>C	ENST00000229829.5	-	3	537	c.462C>G	c.(460-462)gtC>gtG	p.V154V	HLA-DOA_ENST00000450833.2_Silent_p.V124V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	154	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCCCTCAGTGACAGTTTGGC	0.582000													47	86					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|p.?(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)	TTAATACGTCGCCTTTTCTTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						43	85					0	0	1	0	0
PHYKPL	85007	broad.mit.edu	37	5	177649360	177649360	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:177649360T>C	ENST00000308158.5	-	8	1157	c.923A>G	c.(922-924)aAc>aGc	p.N308S	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		ACTCACCGTGTTGAAGTACTC	0.587000													3	35					0	0	1	0	0
TRBV6-6	0	broad.mit.edu	37	7	142162187	142162187	+	RNA	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:142162187G>A	ENST00000390371.3	-	0	131																											TTCAGGATGCGGAATTTTGGG	0.517000													22	39					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900796	51900796	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:51900796G>T	ENST00000268919.4	+	1	558	c.402G>T	c.(400-402)agG>agT	p.R134S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	134					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGATGTGAGGGTCCCCAGCA	0.587000													27	38					9.39395e-14	9.69698e-14	1	1	0
SCGN	10590	broad.mit.edu	37	6	25682193	25682193	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:25682193C>G	ENST00000377961.2	+	7	654	c.486C>G	c.(484-486)gaC>gaG	p.D162E	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	162	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGATTTTTGACAGAAATAAAG	0.353000													16	34					0	0	1	0	0
PDPK2	0	broad.mit.edu	37	16	2692434	2692436	+	RNA	DEL	TGA	TGA	-			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr16:2692434_2692436delTGA	ENST00000382326.1	-	0	861_863																											TCCTCACCATTGATGGGGATGGG	0.631													2	4	---	---	---	---					
LIM2	3982	broad.mit.edu	37	19	51885677	51885678	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:51885677_51885678insA	ENST00000221973.3	-	3	487_488	c.445_446insT	c.(445-447)ctcfs	p.L149fs	LIM2_ENST00000596399.1_Frame_Shift_Ins_p.L107fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACATG	0.564													30	29	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													7	95	---	---	---	---