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
TFCP2L1	29842	broad.mit.edu	37	2	121989537	121989537	+	Silent	SNP	G	G	A	rs145068402		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:121989537G>A	ENST00000263707.5	-	13	1303	c.1206C>T	c.(1204-1206)caC>caT	p.H402H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	402					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGAAGATGGCGTGGTACACTG	0.572000													27	47					0	0	0.706142	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858909	38858909	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:38858909C>T	ENST00000339659.3	+	5	2100	c.630C>T	c.(628-630)taC>taT	p.Y210Y	DYRK1A_ENST00000338785.3_Silent_p.Y219Y|DYRK1A_ENST00000398960.2_Silent_p.Y219Y|DYRK1A_ENST00000321219.8_Silent_p.Y219Y|DYRK1A_ENST00000398956.2_Silent_p.Y219Y|DYRK1A_ENST00000451934.1_Silent_p.Y219Y	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	219	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATGAAATACTACATAGGTA	0.348000													13	18					0	0	0.411799	0	0
DHX37	57647	broad.mit.edu	37	12	125441262	125441262	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:125441262G>A	ENST00000308736.2	-	18	2526	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	DHX37_ENST00000544745.1_Missense_Mutation_p.R597W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	810							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACAGCTCCCGCACCGTCATG	0.647000													19	35					0	0	0.539581	0	0
OR10X1	128367	broad.mit.edu	37	1	158549198	158549198	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:158549198A>C	ENST00000368150.1	-	1	491	c.492T>G	c.(490-492)gcT>gcG	p.A164A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463000													11	35					0	0	0.361761	0	0
C10orf10	11067	broad.mit.edu	37	10	45473220	45473220	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:45473220C>T	ENST00000298295.3	-	2	476	c.259G>A	c.(259-261)Gca>Aca	p.A87T	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	87						mitochondrion				lung(1)	1						CTGAAACGTGCGGTGATGTCT	0.667000													12	28					0	0	0.411799	0	0
NPC1	4864	broad.mit.edu	37	18	21140392	21140392	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr18:21140392G>A	ENST00000269228.5	-	6	1238	c.684C>T	c.(682-684)gaC>gaT	p.D228D	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	228					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCACAGACTCGTCACAGCCTT	0.512000													18	19					0	0	0.539581	0	0
SPSB2	84727	broad.mit.edu	37	12	6981424	6981424	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:6981424G>A	ENST00000519357.1	-	2	828	c.642C>T	c.(640-642)atC>atT	p.I214I	SPSB2_ENST00000523102.1_Silent_p.I214I|SPSB2_ENST00000524270.1_Silent_p.I214I			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	214	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGTAGCGGATGCGGACCT	0.617000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	148	113					0	0	0.870114	0	0
MAPK6	5597	broad.mit.edu	37	15	52350913	52350913	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:52350913G>A	ENST00000261845.5	+	4	1591	c.784G>A	c.(784-786)Gta>Ata	p.V262I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	262	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCTTCTCAGCGTAATTCCAGT	0.408000													11	19					0	0	0.361761	0	0
DIP2A	23181	broad.mit.edu	37	21	47916967	47916967	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:47916967C>T	ENST00000318711.7	+	4	533	c.350C>T	c.(349-351)tCg>tTg	p.S117L	DIP2A_ENST00000427143.2_Missense_Mutation_p.S53L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S117L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S117L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S117L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S117L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S117L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	117					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTATGCCTTCGAAGAGACGT	0.438000													8	13					0	0	0.278610	0	0
KRT40	125115	broad.mit.edu	37	17	39135155	39135155	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:39135155T>A	ENST00000377755.4	-	6	1131	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	KRT40_ENST00000398486.2_Missense_Mutation_p.E366V			Q6A162	K1C40_HUMAN	keratin 40	366	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTCTGTCGCTCCAGGTCGCA	0.617000													24	56					0	0	0.681144	0	0
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408000													38	89					0	0	0.812448	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369528	19369528	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:19369528G>T	ENST00000291481.7	-	4	684	c.621C>A	c.(619-621)gaC>gaA	p.D207E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	207	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGTTGCACCAGTCCAGGCCGT	0.731000													4	7					0.00024832	0.00025633	0.150653	1	0
WDR63	126820	broad.mit.edu	37	1	85564339	85564339	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:85564339G>A	ENST00000294664.6	+	13	1657	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	WDR63_ENST00000326813.8_Missense_Mutation_p.E454K|WDR63_ENST00000370596.1_Missense_Mutation_p.E454K	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	493										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGACACATTTGAGGTGAGACT	0.328000													32	46					0	0	0.788014	0	0
CCT6P3	643180	broad.mit.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	by1000genomes	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:64528850T>G	ENST00000426828.1	+	0	638					NR_033416.1																						GAATTCTGGCTTTTTTTACAA	0.284000													2	5					0	0	0.115264	0	0
TLR10	81793	broad.mit.edu	37	4	38776633	38776633	+	Silent	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:38776633C>A	ENST00000308973.4	-	4	1184	c.579G>T	c.(577-579)ctG>ctT	p.L193L	TLR10_ENST00000508334.1_Silent_p.L193L|TLR10_ENST00000361424.2_Silent_p.L193L|TLR10_ENST00000506111.1_Silent_p.L193L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	193					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAACAATGTGCAGTTTTGTTG	0.358000													21	45					7.41877e-09	8.18623e-09	0.608945	1	0
BSCL2	26580	broad.mit.edu	37	11	62458817	62458817	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:62458817C>T	ENST00000433053.1	-	8	1496	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	BSCL2_ENST00000407022.3_Missense_Mutation_p.V250M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V314M|BSCL2_ENST00000421906.1_Missense_Mutation_p.V250M|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Missense_Mutation_p.V314M|BSCL2_ENST00000403550.1_Missense_Mutation_p.V250M			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	250					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTGAAGAGCACGATGACGCTG	0.562000													14	27					0	0	0.457914	0	0
PDE4B	5142	broad.mit.edu	37	1	66838038	66838038	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:66838038T>C	ENST00000423207.2	+	15	2328	c.1843T>C	c.(1843-1845)Tgg>Cgg	p.W615R	PDE4B_ENST00000371049.3_Missense_Mutation_p.W630R|PDE4B_ENST00000329654.4_Missense_Mutation_p.W630R|PDE4B_ENST00000371045.5_Missense_Mutation_p.W458R|PDE4B_ENST00000480109.2_Missense_Mutation_p.W397R	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	630					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GTGGGAGACATGGGCAGATTT	0.433000													30	45					0	0	0.717897	0	0
OXTR	5021	broad.mit.edu	37	3	8794894	8794894	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:8794894G>A	ENST00000316793.3	-	4	1563	c.939C>T	c.(937-939)atC>atT	p.I313I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	313					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGAGCATGACGATGATGAAGG	0.552000													10	14					0	0	0.335167	0	0
ACTN2	88	broad.mit.edu	37	1	236912510	236912510	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:236912510C>T	ENST00000366578.4	+	14	1768	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	ACTN2_ENST00000542672.1_Silent_p.G534G|ACTN2_ENST00000546208.1_Silent_p.G28G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	534					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGATGGAGGGCGCTATGGAGG	0.443000													9	48					0	0	0.335167	0	0
UBQLN1	29979	broad.mit.edu	37	9	86322560	86322560	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:86322560C>T	ENST00000376395.4	-	1	558	c.35G>A	c.(34-36)gGc>gAc	p.G12D	RP11-522I20.3_ENST00000524818.1_RNA|UBQLN1_ENST00000257468.7_Missense_Mutation_p.G12D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	12					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ATCCTGGGAGCCCGGAGGACC	0.706000													4	2					0	0	0.184627	0	0
AKAP6	9472	broad.mit.edu	37	14	33292161	33292161	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:33292161G>A	ENST00000280979.4	+	13	5312	c.5142G>A	c.(5140-5142)tcG>tcA	p.S1714S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1714					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCGGAATCGAATGCATCGT	0.468000													24	51					0	0	0.654019	0	0
CDC37	11140	broad.mit.edu	37	19	10505957	10505957	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:10505957C>T	ENST00000222005.2	-	4	603	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	184					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCTGTCTCCTCGCACACCAGG	0.587000													49	84					0	0	0.870114	0	0
DCT	1638	broad.mit.edu	37	13	95098003	95098003	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:95098003C>T	ENST00000446125.1	-	8	1674	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	DCT_ENST00000377028.5_Intron	NM_001129889.1	NP_001123361.1	P40126	TYRP2_HUMAN	dopachrome tautomerase	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTTCCTTGGTCGCTTTCTCTT	0.433000													2	2					0	0	0.115264	0	0
EYA2	2139	broad.mit.edu	37	20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:45812032C>T	ENST00000327619.5	+	15	1903	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	EYA2_ENST00000357410.3_Missense_Mutation_p.A431V|EYA2_ENST00000317304.6_Missense_Mutation_p.A480V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	510					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.537000													22	24					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179654722	179654722	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:179654722G>T	ENST00000589042.1	-	12	2145	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	TTN_ENST00000460472.2_Missense_Mutation_p.Q595K|TTN_ENST00000591111.1_Missense_Mutation_p.Q641K|TTN_ENST00000342992.6_Missense_Mutation_p.Q641K|TTN_ENST00000342175.6_Missense_Mutation_p.Q595K|TTN_ENST00000359218.5_Missense_Mutation_p.Q595K|TTN_ENST00000360870.5_Missense_Mutation_p.Q641K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	641							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)			TGAGTTATTTGCACTTGTTCT	0.328000													12	48					1.5842e-08	1.72822e-08	0.435327	1	0
SEMA4A	64218	broad.mit.edu	37	1	156130751	156130751	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156130751C>T	ENST00000368285.3	+	8	1008	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SEMA4A_ENST00000368282.1_Silent_p.F247F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.F115F|SEMA4A_ENST00000355014.2_Silent_p.F247F|SEMA4A_ENST00000368284.1_Silent_p.F115F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	247	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACTTCTTCTTCGAGGAGACAG	0.632000													54	156					0	0	0.870114	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591668	138591668	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:138591668C>T	ENST00000440172.1	-	6	3505	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E1153K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1103K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1153						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTCACGCTCTGCGATCTGC	0.468000			O	BRAF	pilocytic astrocytoma								20	31					0	0	0.592651	0	0
EPPK1	83481	broad.mit.edu	37	8	144941384	144941384	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:144941384G>A	ENST00000525985.1	-	2	6109	c.6038C>T	c.(6037-6039)aCg>aTg	p.T2013M				P58107	EPIPL_HUMAN	epiplakin 1	2013						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACACCCCCCGTGGCCACCTG	0.627000													9	18					0	0	0.307466	0	0
VCAN	1462	broad.mit.edu	37	5	82834751	82834751	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:82834751T>C	ENST00000265077.3	+	8	6494	c.5929T>C	c.(5929-5931)Tca>Cca	p.S1977P	VCAN_ENST00000343200.5_Missense_Mutation_p.S990P|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1977	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTACCTACTTCAGTTCACAT	0.488000													13	31					0	0	0.411799	0	0
DEPTOR	64798	broad.mit.edu	37	8	120977572	120977572	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:120977572C>A	ENST00000286234.5	+	4	656	c.526C>A	c.(526-528)Cag>Aag	p.Q176K	DEPTOR_ENST00000523492.1_Missense_Mutation_p.Q75K	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	176	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CTGGCTGGTTCAGGAAGGTGA	0.562000													12	43					0.000151284	0.000157862	0.435327	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018639	211018639	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:211018639C>T	ENST00000281772.9	-	2	931	c.668G>A	c.(667-669)cGt>cAt	p.R223H	KANSL1L_ENST00000457374.1_Missense_Mutation_p.R223H|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R223H|KANSL1L_ENST00000418791.1_Missense_Mutation_p.R223H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	223																	ATGAAGTAAACGAGCATGTAC	0.403000													24	66					0	0	0.639603	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960982	50960982	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50960982G>T	ENST00000395701.3	+	16	1453	c.1359G>T	c.(1357-1359)agG>agT	p.R453S	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R453S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R454S			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	453					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGACCCCAGGGAAGCCGCTG	0.652000													16	30					5.3912e-06	5.75062e-06	0.539581	1	0
CACNG3	10368	broad.mit.edu	37	16	24366272	24366272	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:24366272G>A	ENST00000005284.3	+	3	1616	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TTCTCAGCGCGGGCATCTTTT	0.572000													6	25					0	0	0.307466	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47567892	47567892	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:47567892C>T	ENST00000371917.4	+	4	309	c.309C>T	c.(307-309)aaC>aaT	p.N103N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	103					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCACTGGCAACGCCCCTGACA	0.517000													11	25					0	0	0.361761	0	0
TACC2	10579	broad.mit.edu	37	10	123970459	123970459	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:123970459G>A	ENST00000369005.1	+	9	6859	c.6519G>A	c.(6517-6519)acG>acA	p.T2173T	TACC2_ENST00000368999.1_Silent_p.T251T|TACC2_ENST00000515273.1_Silent_p.T2177T|TACC2_ENST00000453444.2_Silent_p.T2177T|TACC2_ENST00000513429.1_Silent_p.T319T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.T251T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Silent_p.T2173T|TACC2_ENST00000369004.3_Silent_p.T251T|TACC2_ENST00000360561.3_Silent_p.T251T|TACC2_ENST00000358010.1_Silent_p.T319T|TACC2_ENST00000515603.1_Silent_p.T2128T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2173						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGAGACGAAAACGGAAT	0.592000													36	63					0	0	0.788014	0	0
KIAA1109	84162	broad.mit.edu	37	4	123176339	123176339	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:123176339T>C	ENST00000264501.4	+	40	6652	c.6279T>C	c.(6277-6279)gtT>gtC	p.V2093V	KIAA1109_ENST00000455637.1_Silent_p.V2093V|KIAA1109_ENST00000388738.3_Silent_p.V2093V			Q2LD37	K1109_HUMAN	KIAA1109	2093					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAAAGTTGCTCGCTTTC	0.338000													5	53					0	0	0.184627	0	0
THADA	63892	broad.mit.edu	37	2	43755035	43755035	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:43755035G>A	ENST00000405006.4	-	22	3708	c.3357C>T	c.(3355-3357)ctC>ctT	p.L1119L	THADA_ENST00000330266.7_Silent_p.L829L|THADA_ENST00000405975.2_Silent_p.L1119L|THADA_ENST00000415080.2_Silent_p.L829L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1119							binding	p.L1119L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTACTTCAGTGAGTTTCACAA	0.323000													6	130					0	0	0.217242	0	0
TMEM62	80021	broad.mit.edu	37	15	43452910	43452910	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43452910A>G	ENST00000260403.2	+	10	1493	c.1214A>G	c.(1213-1215)cAc>cGc	p.H405R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	405						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTGTTCACCACATATTTTCT	0.318000													13	56					0	0	0.500413	0	0
RARG	5916	broad.mit.edu	37	12	53609209	53609209	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:53609209G>A	ENST00000425354.2	-	5	830	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RARG_ENST00000394426.1_Missense_Mutation_p.R115C|RARG_ENST00000338561.5_Missense_Mutation_p.R104C|RARG_ENST00000543726.1_Missense_Mutation_p.R93C|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R43C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	115					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R115C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGCTTCGGCGAAAGAAGCCC	0.552000													20	35					0	0	0.608945	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719042	50719042	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50719042C>T	ENST00000449103.1	-	25	4191	c.4051G>A	c.(4051-4053)Gcg>Acg	p.A1351T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1351T			O15031	PLXB2_HUMAN	plexin B2	1351					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGGGACGCGAAGTAGACC	0.637000													7	37					0	0	0.248553	0	0
POLR3E	55718	broad.mit.edu	37	16	22324968	22324968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:22324968G>A	ENST00000299853.5	+	7	559	c.392G>A	c.(391-393)gGc>gAc	p.G131D	POLR3E_ENST00000359210.4_Missense_Mutation_p.G131D|POLR3E_ENST00000418581.2_Missense_Mutation_p.G95D|POLR3E_ENST00000564209.1_Missense_Mutation_p.G131D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	131					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCTTTACATGGCATCCTGCAG	0.612000													3	39					0	0	0.184627	0	0
GC	2638	broad.mit.edu	37	4	72629179	72629179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:72629179G>T	ENST00000273951.8	-	6	990	c.647C>A	c.(646-648)tCa>tAa	p.S216*	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.S216*|GC_ENST00000504199.1_Nonsense_Mutation_p.S235*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	216	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GACTCTATTTGACAGAGTGGT	0.358000													24	48					1.17739e-12	1.3143e-12	0.693898	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18165392	18165392	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:18165392A>C	ENST00000278816.2	+	10	2781	c.2131A>C	c.(2131-2133)Aga>Cga	p.R711R	CSRP2BP_ENST00000435364.2_Silent_p.R711R|CSRP2BP_ENST00000377681.2_Silent_p.R710R|CSRP2BP_ENST00000489634.2_Silent_p.R583R			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	711	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCTGAATGGAGAAGAGCAGG	0.393000													22	52					0	0	0.624587	0	0
RBX1	9978	broad.mit.edu	37	22	41363843	41363843	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:41363843C>T	ENST00000216225.8	+	4	309	c.269C>T	c.(268-270)aCa>aTa	p.T90I		NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	90					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGGCTCAAAACACGACAGGTG	0.438000													15	36					0	0	0.539581	0	0
JAK2	3717	broad.mit.edu	37	9	5065041	5065041	+	Splice_Site	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:5065041G>A	ENST00000381652.3	+	9	1708		c.e9+1		JAK2_ENST00000544510.1_Splice_Site|JAK2_ENST00000539801.1_Splice_Site	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.?(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCCCAATTTCGTGAGTAATAC	0.313000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				11	6					0	0	0.361761	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50418478	50418478	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:50418478T>C	ENST00000435965.1	-	7	905	c.732A>G	c.(730-732)acA>acG	p.T244T	CACNA2D2_ENST00000423994.2_Silent_p.T244T|CACNA2D2_ENST00000395083.1_Silent_p.T244T|CACNA2D2_ENST00000360963.3_Silent_p.T175T|CACNA2D2_ENST00000479441.1_Silent_p.T244T|CACNA2D2_ENST00000429770.1_Silent_p.T244T|CACNA2D2_ENST00000424201.2_Silent_p.T244T|CACNA2D2_ENST00000266039.3_Silent_p.T244T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	244					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCACAGCAGTGTGGGGTCTT	0.607000													36	62					0	0	0.788014	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258218	25258218	+	Silent	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:25258218A>G	ENST00000264864.6	+	4	867	c.678A>G	c.(676-678)aaA>aaG	p.K226K	PI4K2B_ENST00000512921.1_Silent_p.K130K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	226	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ACCGTGCAAAATCAAGAGGCA	0.363000													28	57					0	0	0.693898	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967505	106967505	+	RNA	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:106967505G>A	ENST00000390622.2	-	0	283																											TTTCCTCTCAGAGGCTTCTGT	0.488000													14	23					0	0	0.435327	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275690	130275690	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:130275690G>A	ENST00000257359.6	-	9	3139	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	811	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAAAGTCCACGTCATTAGGAA	0.567000													57	105					0	0	0.870114	0	0
BCAN	63827	broad.mit.edu	37	1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156622478G>A	ENST00000329117.4	+	8	2072	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642000													18	30					0	0	0.557998	0	0
ATM	472	broad.mit.edu	37	11	108153603	108153603	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:108153603A>G	ENST00000278616.4	+	25	4128	c.3743A>G	c.(3742-3744)tAt>tGt	p.Y1248C	ATM_ENST00000452508.2_Missense_Mutation_p.Y1248C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1248					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGATTTCTATAGGTAAGTT	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	8					0	0	0.115264	0	0
AGTR1	185	broad.mit.edu	37	3	148459232	148459232	+	Missense_Mutation	SNP	G	G	A	rs56257794		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:148459232G>A	ENST00000542281.1	+	4	856	c.410G>A	c.(409-411)cGc>cAc	p.R137H	AGTR1_ENST00000461609.1_Missense_Mutation_p.R137H|AGTR1_ENST00000404754.2_Missense_Mutation_p.R137H|AGTR1_ENST00000418473.2_Missense_Mutation_p.R137H|AGTR1_ENST00000475347.1_Missense_Mutation_p.R137H|AGTR1_ENST00000497524.1_Missense_Mutation_p.R137H|AGTR1_ENST00000349243.3_Missense_Mutation_p.R137H|AGTR1_ENST00000474935.1_Missense_Mutation_p.R137H|AGTR1_ENST00000402260.1_Missense_Mutation_p.R137H	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	137					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGAAGTCCCGCCTTCGACGC	0.488000													45	151					0	0	0.859065	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770448	31770448	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:31770448C>T	ENST00000240587.4	-	2	578	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	84					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCAGCCATTCGGTCACTGGT	0.587000													10	21					0	0	0.335167	0	0
DNAH3	55567	broad.mit.edu	37	16	20999297	20999297	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:20999297T>C	ENST00000261383.3	-	45	6691	c.6692A>G	c.(6691-6693)cAc>cGc	p.H2231R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2231	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCCCGAAGTGCCAGTCAAC	0.448000													9	33					0	0	0.307466	0	0
SCEL	8796	broad.mit.edu	37	13	78176794	78176794	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:78176794A>G	ENST00000535157.1	+	16	1087	c.917A>G	c.(916-918)cAa>cGa	p.Q306R	SCEL_ENST00000349847.3_Missense_Mutation_p.Q328R|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.Q308R|SCEL-AS1_ENST00000456280.2_RNA	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	328	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAAGAAGACAAAATCTCGAA	0.358000													21	54					0	0	0.667858	0	0
NPR3	4883	broad.mit.edu	37	5	32712195	32712195	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:32712195G>A	ENST00000265074.8	+	1	656	c.313G>A	c.(313-315)Gat>Aat	p.D105N	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.D105N|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	105					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTACGAGGATTCAGACTG	0.682000													25	44					0	0	0.639603	0	0
GJB3	2707	broad.mit.edu	37	1	35250490	35250490	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:35250490G>A	ENST00000373366.2	+	2	742	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	GJB3_ENST00000373362.3_Missense_Mutation_p.V43M|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	43					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCAGAGCGCGTGTGGGGGGA	0.592000													5	18					0	0	0.184627	0	0
LRP1B	53353	broad.mit.edu	37	2	141081592	141081592	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:141081592T>C	ENST00000389484.3	-	81	13355	c.12384A>G	c.(12382-12384)atA>atG	p.I4128M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4128					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGCTCCATATATATAATCTT	0.294000										TSP Lung(27;0.18)			26	39					0	0	0.693898	0	0
BCAS1	8537	broad.mit.edu	37	20	52570172	52570172	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:52570172C>T	ENST00000395961.3	-	11	1645	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	BCAS1_ENST00000371440.3_Silent_p.Q502Q|BCAS1_ENST00000371435.2_Silent_p.Q415Q|BCAS1_ENST00000434986.2_Silent_p.Q159Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	493						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTTACCCTTCTGTGGTGCTC	0.493000													15	40					0	0	0.457914	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831655	27831655	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:27831655C>T	ENST00000396319.2	+	9	1157	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.R200C|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.R357C|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.R357C|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.R357C	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	357	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAGCAACTTCGTAAAGCAGA	0.388000													14	30					0	0	0.479597	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931101	43931101	+	Splice_Site	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43931101C>T	ENST00000396879.1	-	8	955		c.e8+1		CATSPER2_ENST00000355438.2_Splice_Site|CATSPER2_ENST00000354127.4_Splice_Site|CATSPER2_ENST00000321596.5_Splice_Site|CATSPER2_ENST00000381761.1_Splice_Site|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTTACGAGAAGAACA	0.463000													22	17					0	0	0.624587	0	0
C16orf58	64755	broad.mit.edu	37	16	31510704	31510704	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:31510704G>A	ENST00000327237.2	-	5	558	c.519C>T	c.(517-519)gaC>gaT	p.D173D	C16orf58_ENST00000430477.2_Silent_p.D31D|C16orf58_ENST00000567994.1_Silent_p.D128D|C16orf58_ENST00000570164.1_Silent_p.D173D			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	173						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						ACATGGCTACGTCATTGAGGA	0.547000													19	24					0	0	0.639603	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853517	35853517	+	Missense_Mutation	SNP	C	C	T	rs148540551	by1000genomes	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:35853517C>T	ENST00000377988.2	+	13	2387	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	TMEM8B_ENST00000377991.4_Missense_Mutation_p.R367C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	367					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ACGCAGCGTCCGCCGCCGGCA	0.597000													14	8					0	0	0.435327	0	0
CASZ1	54897	broad.mit.edu	37	1	10715871	10715871	+	Splice_Site	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:10715871C>A	ENST00000377022.3	-	9	1818		c.e9-1		CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632000													13	20					7.93312e-07	8.55707e-07	0.457914	1	0
SPTBN5	51332	broad.mit.edu	37	15	42169045	42169045	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:42169045G>A	ENST00000320955.6	-	19	4040	c.3813C>T	c.(3811-3813)ggC>ggT	p.G1271G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1271					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTTCTCGCCGTGTGCCC	0.672000													8	20					0	0	0.278610	0	0
ZMYM5	9205	broad.mit.edu	37	13	20412924	20412924	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:20412924G>A	ENST00000337963.4	-	5	1052	c.788C>T	c.(787-789)tCa>tTa	p.S263L	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S263L	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	263						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGGTGAGCTGATCCTTTTCG	0.403000													51	83					0	0	0.870114	0	0
ANO5	203859	broad.mit.edu	37	11	22281076	22281076	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:22281076C>T	ENST00000324559.8	+	15	1736	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	473						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCTCTTGTCGTCACCAGTA	0.383000													29	35					0	0	0.693898	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701511	48701511	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:48701511C>T	ENST00000236495.5	+	11	1377	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	SLC5A9_ENST00000533824.1_Missense_Mutation_p.R439C|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R418C|SLC5A9_ENST00000420136.2_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	418						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCAGCGCTTCCGCAGGAAGTC	0.617000													15	23					0	0	0.539581	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290623	23290623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:23290623C>T	ENST00000358689.4	-	13	1902	c.1667G>A	c.(1666-1668)cGg>cAg	p.R556Q	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R548Q|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	556					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGAAACGCCCCGCCAGTGGGT	0.582000													9	15					0	0	0.335167	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595084	1595084	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:1595084C>T	ENST00000297477.5	-	2	353	c.37G>A	c.(37-39)Gtc>Atc	p.V13I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	13						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ACCAGGGGGACGCCGGCTGTC	0.677000													19	32					0	0	0.575678	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021582	27021582	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:27021582G>T	ENST00000354760.3	+	4	331	c.296G>T	c.(295-297)tGt>tTt	p.C99F	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	99	Connecting peptide.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCTGCGGCCTGTGCTGTAAGT	0.597000													21	65					2.27525e-19	2.5697e-19	0.667858	1	0
ASAP3	55616	broad.mit.edu	37	1	23769117	23769117	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:23769117G>A	ENST00000437606.2	-	5	480	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ASAP3_ENST00000336689.3_Intron	NM_001143778.1	NP_001137250.1	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	145					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TAGACCCCAAGGAAAGAGAAG	0.617000													4	12					0	0	0.150653	0	0
POLR2B	5431	broad.mit.edu	37	4	57889516	57889516	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:57889516G>A	ENST00000381227.1	+	20	2949	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	POLR2B_ENST00000431623.2_Missense_Mutation_p.D771N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D846N|POLR2B_ENST00000441246.2_Missense_Mutation_p.D839N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	846					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418000													10	29					0	0	0.335167	0	0
AGK	55750	broad.mit.edu	37	7	141315304	141315304	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:141315304C>T	ENST00000355413.4	+	8	717	c.457C>T	c.(457-459)Cca>Tca	p.P153S	AGK_ENST00000535825.1_Missense_Mutation_p.P150S|AGK_ENST00000473247.1_Missense_Mutation_p.P125S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	153	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGATTTATCCCACTGGGAGA	0.443000													54	112					0	0	0.870114	0	0
SLC23A2	9962	broad.mit.edu	37	20	4842675	4842675	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:4842675G>A	ENST00000379333.1	-	15	1935	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R401W|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R515W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	515					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGAGGTTCCGGGAAGAATTT	0.473000													14	20					0	0	0.457914	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	52					0	0	0.500413	0	0
ATRX	546	broad.mit.edu	37	X	76890120	76890120	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:76890120G>A	ENST00000373344.5	-	17	4988	c.4774C>T	c.(4774-4776)Ctt>Ttt	p.L1592F	ATRX_ENST00000395603.3_Missense_Mutation_p.L1554F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1592	Helicase ATP-binding.				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.?(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)	CAGTGGGCAAGAATGCATCCT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						52	21					0	0	0.870114	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													9	47	---	---	---	---					
WDPCP	51057	broad.mit.edu	37	2	63605643	63605645	+	Splice_Site	DEL	TGC	TGC	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:63605643_63605645delTGC	ENST00000409120.1	-	6	4599_4600	c.1048_splice	c.e6-1	p.350_splice	WDPCP_ENST00000272321.7_Splice_Site_p.542_splice|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Splice_Site_p.542_splice|WDPCP_ENST00000409199.1_Splice_Site_p.350_splice|WDPCP_ENST00000398544.3_Splice_Site_p.383_splice			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	542					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCTCAAGCTGTGCTGTGGAATTC	0.394													26	42	---	---	---	---					
NECAB1	64168	broad.mit.edu	37	8	91967721	91967721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:91967721delG	ENST00000417640.2	+	13	1374	c.1037delG	c.(1036-1038)tgfs	p.W347fs	NECAB1_ENST00000521366.1_Frame_Shift_Del_p.W96fs|NECAB1_ENST00000522820.1_Frame_Shift_Del_p.W96fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	347					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAGCTTCGTGGTGGATCCTG	0.338													2	4	---	---	---	---					
LOC283194	283194	broad.mit.edu	37	11	58766182	58766182	+	RNA	DEL	T	T	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:58766182delT	ENST00000533954.1	-	0	507				RP11-142C4.6_ENST00000532098.1_RNA	NR_033853.1																						ATCCCAGTCATTTTTTATCTC	0.383													2	4	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													4	7	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)cag>ca	p.HQ108del	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													3	4	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69257045	69257046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:69257045_69257046insT	ENST00000439696.2	-	2	522_523	c.221_222insA	c.(220-222)gccfs	p.A74fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.A74fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	74					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGGCTGGCTCACCCTTGAG	0.698											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	4	---	---	---	---					
MECP2	4204	broad.mit.edu	37	X	153363100	153363102	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:153363100_153363102delGCG	ENST00000453960.2	-	1	75_77	c.21_23delCGC	c.(19-24)gcg>gc	p.AA7del	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778													2	4	---	---	---	---