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
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	105					0	0	1	0	0
LILRA3	0	broad.mit.edu	37	19	54802057	54802057	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:54802057C>T	ENST00000391745.1	-	10	1498	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	LILRA3_ENST00000391744.3_Silent_p.K313K|LILRA3_ENST00000251390.3_Silent_p.K377K					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGGTACTTATGAGATT	0.572000													12	135					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153190676	153190676	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr5:153190676G>T	ENST00000285900.5	+	16	2955	c.2612G>T	c.(2611-2613)gGc>gTc	p.G871V	GRIA1_ENST00000340592.5_Missense_Mutation_p.G871V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	871					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAGCGGCGGCAGTGGAGAG	0.582000													11	45					2.80697e-09	3.04587e-09	1	1	0
RP1	6101	broad.mit.edu	37	8	55542654	55542654	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:55542654T>C	ENST00000220676.1	+	4	6360	c.6212T>C	c.(6211-6213)tTa>tCa	p.L2071S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2071					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATAACAACTTATTAAATAAC	0.363000													4	38					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147024667	147024667	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:147024667G>A	ENST00000218200.8	+	13	1458	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000439526.2_Missense_Mutation_p.R408H|FMR1_ENST00000370477.1_Missense_Mutation_p.R410H|FMR1_ENST00000370470.1_Missense_Mutation_p.R431H|FMR1_ENST00000370475.4_Missense_Mutation_p.R431H|FMR1_ENST00000440235.2_Missense_Mutation_p.R78H	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	431					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R431H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTTGCGTTTGGAGAGA	0.323000									Fragile X syndrome				11	43					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61761625	61761625	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:61761625G>T	ENST00000423902.2	+	25	5795	c.5316G>T	c.(5314-5316)tgG>tgT	p.W1772C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1772					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCGATGTGTGGATCCCTGAAC	0.388000													7	113					0.0477658	0.0487211	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1497571	1497571	+	Silent	SNP	C	C	A	rs145602140		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:1497571C>A	ENST00000331035.4	+	10	1243	c.894C>A	c.(892-894)ggC>ggA	p.G298G	IL3RA_ENST00000381469.2_Silent_p.G220G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	298						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGGAGGGCGCAAACACAC	0.672000													3	22					0.115264	0.115264	1	1	0
GTF3C4	9329	broad.mit.edu	37	9	135553528	135553528	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532000													7	67					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866508	56866508	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:56866508G>A	ENST00000520220.2	+	8	966	c.692G>A	c.(691-693)aGg>aAg	p.R231K	LYN_ENST00000519728.1_Missense_Mutation_p.R252K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	252					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTGGTGAAAAGGCTTGGCGCT	0.527000													7	69					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926705	130926705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr12:130926705G>A	ENST00000261655.4	-	8	1304	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.Q289*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.Q289*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	381						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCGTGCACTGCAGCTCATCC	0.637000													9	37					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680580	73680580	+	Missense_Mutation	SNP	C	C	T	rs147001219	by1000genomes	TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:73680580C>T	ENST00000264448.6	+	8	7034	c.6923C>T	c.(6922-6924)aCg>aTg	p.T2308M	ALMS1_ENST00000377715.1_Missense_Mutation_p.T2308M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2266M	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2308					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCTCTTCCACGGGTGTATCT	0.438000													6	75					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7693125	7693125	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:7693125G>C	ENST00000358368.4	-	2	148	c.111C>G	c.(109-111)tgC>tgG	p.C37W	XAB2_ENST00000534844.1_Missense_Mutation_p.C34W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	37					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCGAAGCCAGCATTTGACAG	0.582000								Direct reversal of damage;Nucleotide excision repair (NER)					5	41					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102944392	102944392	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:102944392C>T	ENST00000249269.4	+	5	599	c.561C>T	c.(559-561)acC>acT	p.T187T	PMPCB_ENST00000420236.2_Silent_p.T82T|PMPCB_ENST00000428154.1_Silent_p.T187T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	187					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGTTGAAACCAATTTACAAG	0.378000													6	43					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152373125	152373125	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:152373125C>T	ENST00000359321.1	-	1	125		c.e1+1			NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2						meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCGGCTCTCACCTCGGTCCCA	0.672000								Homologous recombination					6	35					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108868606	108868606	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr4:108868606C>T	ENST00000332884.6	+	3	1476	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P192S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	401					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGCCCAGATGCCCTACACAGA	0.488000													4	61					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	33					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558561	143558561	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:143558561G>A	ENST00000517894.1	+	5	2038	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	BAI1_ENST00000323289.5_Missense_Mutation_p.V382M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	382	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTTCTGCGTGTCCTCCTC	0.701000													5	29					0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13612065	13612065	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:13612065C>A	ENST00000606117.1	+	10	1197	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SIRT5_ENST00000397350.2_Missense_Mutation_p.L193I|SIRT5_ENST00000359782.3_Missense_Mutation_p.L283I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	301	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TCCTGAAGCCCTTGCCTGTCA	0.423000													5	320					8.12818e-05	8.6362e-05	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154113942	154113942	+	Silent	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:154113942G>A	ENST00000368559.3	-	4	602	c.531C>T	c.(529-531)aaC>aaT	p.N177N	NUP210L_ENST00000271854.3_Silent_p.N177N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	177						integral to membrane		p.N177K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGCTGACTCGTTGTCCTGGG	0.413000													7	101					0	0	1	0	0
AC022596.6	0	broad.mit.edu	37	17	16722536	16722536	+	RNA	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:16722536T>C	ENST00000417510.1	-	0	1194																											TCCCTGCCAGTTCTGGGTGCA	0.567000													9	52					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949686	198949686	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:198949686C>T	ENST00000428675.1	+	2	1843	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A384V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	482	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCTTTGTTGCTTCTGAATAC	0.393000													6	47					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													5	169					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132939003	132939003	+	Silent	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:132939003T>C	ENST00000275191.2	-	1	314	c.207A>G	c.(205-207)acA>acG	p.T69T	TAAR2_ENST00000537809.1_Silent_p.T69T|TAAR2_ENST00000367931.1_Silent_p.T114T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	114						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTTGCAAAATGTAAGCCCAA	0.393000													13	64					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016418	161016418	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:161016418G>T	ENST00000447678.1	-	22	3557	c.3437C>A	c.(3436-3438)cCa>cAa	p.P1146Q	LPA_ENST00000316300.5_Missense_Mutation_p.P1146Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3654	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTGGATCTGGGACCACCGT	0.498000													21	111					0.00278032	0.0028938	1	1	0
PEX3	8504	broad.mit.edu	37	6	143784112	143784112	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:143784112C>G	ENST00000367591.4	+	3	328	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	89					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCCGAGAGCCTCACAGCTCT	0.358000													4	39					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886148	144886148	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:144886148T>C	ENST00000369359.4	-	26	3535	c.3497A>G	c.(3496-3498)gAg>gGg	p.E1166G	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1095G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1029					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCCTTTAGCTCCTTCAGTTC	0.522000			T	PDGFRB	MPD								5	219					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293033	42293033	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:42293033C>T	ENST00000302904.4	-	5	955	c.463G>A	c.(463-465)Gag>Aag	p.E155K	UBTF_ENST00000529383.1_Missense_Mutation_p.E155K|UBTF_ENST00000526094.1_Missense_Mutation_p.E155K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.E155K|UBTF_ENST00000436088.1_Missense_Mutation_p.E155K|UBTF_ENST00000343638.5_Missense_Mutation_p.E155K|UBTF_ENST00000393606.3_Missense_Mutation_p.E155K|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.E155K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	155					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTTCTTCTCCGGAAGCTCC	0.547000													21	131					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080594	23080594	+	Silent	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:23080594G>A	ENST00000219689.7	-	16	2831	c.2832C>T	c.(2830-2832)gtC>gtT	p.V944V	USP31_ENST00000567975.1_Silent_p.V237V	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	944	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGCCTTCCATGACAGCCAGAG	0.567000													8	79					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608026	46608026	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:46608026G>T	ENST00000239174.6	-	1	333	c.241C>A	c.(241-243)Ccc>Acc	p.P81T	HOXB1_ENST00000577092.1_Missense_Mutation_p.P81T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	81						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACCCCGAGGGCGCGGAGCTG	0.657000													14	95					2.32078e-09	2.57304e-09	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80400435	80400435	+	Silent	SNP	A	A	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:80400435A>T	ENST00000337014.6	+	12	2199	c.1725A>T	c.(1723-1725)acA>acT	p.T575T	HEXDC_ENST00000577944.1_3'UTR|HEXDC_ENST00000327949.9_3'UTR	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAGAAAACACAGAAGGAAGCA	0.577000													11	98					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28463646	28463646	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr15:28463646G>A	ENST00000261609.7	-	38	6125	c.6017C>T	c.(6016-6018)aCg>aTg	p.T2006M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2006					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCTTGTCCGTCGTTCCGCT	0.552000													4	81					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132687348	132687348	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:132687348C>T	ENST00000420781.1	-	9	1096	c.878G>A	c.(877-879)cGc>cAc	p.R293H	FNBP1_ENST00000355681.3_Missense_Mutation_p.R293H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R293H			Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGACACAGTGCGCTTCATTGG	0.418000			T	MLL	AML								4	58					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84562813	84562813	+	RNA	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:84562813G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GAGGACCACCGCGTTGATACC	0.418000													8	13					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852259	31852259	+	Missense_Mutation	SNP	C	C	T	rs143327875		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:31852259C>T	ENST00000395728.3	-	20	2851	c.2852G>A	c.(2851-2853)cGc>cAc	p.R951H	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R860H|EHMT2_ENST00000375528.4_Missense_Mutation_p.R917H|EHMT2_ENST00000375537.4_Missense_Mutation_p.R894H			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	894					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGTCGGAGCGCTCGGGAGT	0.607000													12	82					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684766	100684766	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:100684766G>A	ENST00000306151.4	+	3	10133	c.10069G>A	c.(10069-10071)Gct>Act	p.A3357T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3357	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)					CAGTTCTGAGGCTAGCACCCT	0.483000													6	387					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79746701	79746701	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr14:79746701T>A	ENST00000281127.7	+	1	946	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	NRXN3_ENST00000557594.1_Missense_Mutation_p.F23I|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.F23I|NRXN3_ENST00000554719.1_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	23					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGATCTGGTTCCTGTTCTG	0.592000													7	149					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34839138	34839138	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr18:34839138C>G	ENST00000588597.1	-	11	1312	c.1303G>C	c.(1303-1305)Gtc>Ctc	p.V435L	CELF4_ENST00000591287.1_Intron|CELF4_ENST00000603232.1_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000412753.1_Intron|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000591282.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000420428.2_Intron			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	447	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GAGGAGATGACATTACCGAAA	0.522000													3	42					0	0	1	0	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													5	127					0	0	1	0	0
NRN1L	123904	broad.mit.edu	37	16	67919731	67919731	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:67919731C>T	ENST00000339176.3	+	2	285	c.186C>T	c.(184-186)cgC>cgT	p.R62R	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	62						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCATGGGCCGCGGAGGCGAGC	0.612000													5	69					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143701	41143701	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:41143701C>T	ENST00000361677.1	+	5	1822	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	604										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTGGCTGTGCGCCAGCTCAA	0.522000													6	64					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505743	159505743	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:159505743T>C	ENST00000334857.2	-	1	99	c.55A>G	c.(55-57)Agc>Ggc	p.S19G		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTCCAAAGCTAGAAAATCCC	0.373000													6	103					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	518459	518459	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr10:518459C>A	ENST00000280886.6	-	3	275	c.188G>T	c.(187-189)cGg>cTg	p.R63L	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	63						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACAGGAGCCCGGCGTTCTTG	0.572000													12	59					1.61879e-10	1.83463e-10	1	1	0
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:146755630_146755632delGAC	ENST00000361719.2	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)del	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													7	143	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108159780	108159784	+	Frame_Shift_Del	DEL	TGTCA	TGTCA	-			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr11:108159780_108159784delTGTCA	ENST00000278616.4	+	28	4571_4575	c.4186_4190delTGTCA	c.(4186-4191)tfs	p.CH1396fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.CH1396fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1396					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)		TATCAGCAATTGTCATAAAACCAAG	0.322			"""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)			7	43	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124739423	124739423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr11:124739423delC	ENST00000397801.1	+	3	757	c.565delC	c.(565-567)ccfs	p.P190fs	ROBO3_ENST00000538940.1_Frame_Shift_Del_p.P168fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	190	Ig-like C2-type 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAATGCGTGCCCCCCCGCGG	0.642													2	4	---	---	---	---