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
HCLS1	3059	broad.mit.edu	37	3	121351231	121351231	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr3:121351231G>C	ENST00000314583.3	-	12	1279	c.1188C>G	c.(1186-1188)gaC>gaG	p.D396E	HCLS1_ENST00000428394.2_Missense_Mutation_p.D359E|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	396					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCCTCATAGTCCCCCTCTG	0.557000													8	380					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527606	23527606	+	Silent	SNP	C	C	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:23527606C>A	ENST00000296682.3	+	11	2591	c.2409C>A	c.(2407-2409)ccC>ccA	p.P803P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	803					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.567000										HNSCC(3;0.000094)			6	209					8.12818e-05	8.12818e-05	1	1	0
POM121L9P	0	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	39					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135																											TGACAGTCCATCTCTGTACGA	0.363000													3	51					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490028	71490028	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:71490028G>C	ENST00000296755.7	+	5	1144	c.846G>C	c.(844-846)atG>atC	p.M282I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	282						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTCAATATGCTCATCAATG	0.502000													12	121					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104353429	104353429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr10:104353429C>T	ENST00000369902.3	+	5	800	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q212*|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q212*	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	212					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.Q212K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACTCAGCCCAGCAGTGGAA	0.617000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				18	80					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	84					0	0	1	0	0
RP11-445N18.7	0	broad.mit.edu	37	10	45652269	45652269	+	RNA	SNP	G	G	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr10:45652269G>A	ENST00000427229.2	+	0	1783																											CACCCTTGGCGGAAAGAACAC	0.473000													3	43					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr16:90161753T>C	ENST00000564451.1	+	0	1106				TUBB8P7_ENST00000567960.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													4	116					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183111704	183111704	+	Missense_Mutation	SNP	G	G	A	rs79826197	by1000genomes	TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr1:183111704G>A	ENST00000258341.4	+	28	4866	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1537	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAAGCTAAACGAGATTGAAGG	0.448000													3	66					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	26					0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7734285	7734285	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr19:7734285G>A	ENST00000221515.2	+	2	161	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RETN_ENST00000381324.2_Missense_Mutation_p.E25K	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	25							hormone activity			ovary(1)	1						GTGCTCCATGGAAGAAGCCAT	0.587000													11	175					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29623222	29623222	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr20:29623222G>A	ENST00000278882.3	+	3	414	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	FRG1B_ENST00000439954.2_Missense_Mutation_p.G13D|FRG1B_ENST00000358464.4_Missense_Mutation_p.V12I																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTCGACAATGGTCTTTTTACC	0.413000													31	813					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													8	99	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25463196	25463197	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr2:25463196_25463197delTT	ENST00000264709.3	-	19	2633_2634	c.2296_2297delAA	c.(2296-2298)gfs	p.K766fs	DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.K766fs|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.K543fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.K577fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	766					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTCCCTCTTGTCACTAACG	0.545			"""Mis, F, N, S"""		AML								37	218	---	---	---	---					
ANKRD36BP2	0	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
DLX2	1746	broad.mit.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr2:172967128_172967129insGCT	ENST00000234198.4	-	1	499_500	c.138_139insAGC	c.(136-141)agtcca>agAGCtcca	p.46_46S>RA	DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738													3	6	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													7	205	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	GCA	-	rs72509739		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr11:9113009_9113011delGCA	ENST00000457346.2	-	1	139_141	c.65_67delTGC	c.(64-69)ccg>c	p.LP22del	SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	22						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788													2	4	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65836145	65836146	+	Splice_Site	INS	-	-	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr11:65836145_65836146insA	ENST00000528302.1	+	21	2620_2621	c.2565_splice	c.e21-1	p.K856_splice	RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Splice_Site_p.K873_splice			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	873					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	94	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttg>t	p.LL4432del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4432					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													7	212	---	---	---	---					
RP11-123M6.2	0	broad.mit.edu	37	14	101302257	101302258	+	RNA	INS	-	-	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr14:101302257_101302258insA	ENST00000554041.1	-	0	143																											CGCCGTGGCCCTGAGAGTCCTG	0.658													2	4	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													7	457	---	---	---	---					
RRN3P1	0	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													5	6	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173535	80173535	+	RNA	DEL	C	C	-	rs112012232		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr17:80173535delC	ENST00000581303.1	+	0	1371																											tccttccctgccccccacact	0.701													2	4	---	---	---	---					
