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
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582000													6	26					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468000													4	109					0	0	1	0	0
RP11-47I22.4	0	broad.mit.edu	37	14	61997175	61997175	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr14:61997175C>A	ENST00000556347.1	+	2	137	c.137C>A	c.(136-138)gCg>gAg	p.A46E	PRKCH_ENST00000332981.5_Silent_p.G541G|PRKCH_ENST00000555082.1_Silent_p.G380G																							GGGCAATGGGCGTGTTGCTCT	0.517000													4	171					1	1	1	1	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612000			Mis		uveal melanoma								15	30					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884416	63884416	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:63884416G>A	ENST00000246841.3	+	2	1720	c.677G>A	c.(676-678)cGc>cAc	p.R226H	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	198					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AGCCTGCGGCGCCTGGTGCTG	0.657000													6	15					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113723746	113723746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:113723746C>G	ENST00000550785.1	+	19	1891	c.1722C>G	c.(1720-1722)taC>taG	p.Y574*	TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Y502*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	502						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTGTGGAGTACTTGTCTTCCG	0.587000													39	21					0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107216757	107216757	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:107216757C>A	ENST00000542267.1	-	8	2352	c.1946G>T	c.(1945-1947)gGg>gTg	p.G649V	FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	649										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCATCAGCCCCAAATATCT	0.413000													44	76					4.10826e-27	4.31367e-27	1	1	0
APC	324	broad.mit.edu	37	5	112179702	112179702	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:112179702A>C	ENST00000457016.1	+	16	8791	c.8411A>C	c.(8410-8412)cAg>cCg	p.Q2804P	APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2804	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGGCCATCTCAGATCCCAACT	0.488000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			45	37					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGTCTGGCGGCAAAGCGGCA	0.662000													3	47					0	0	1	0	0
RP11-313J2.1	0	broad.mit.edu	37	10	42832431	42832431	+	RNA	SNP	A	A	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr10:42832431A>G	ENST00000609841.1	-	0	1472					NR_024380.1																						TCTTGTGTATAGTAAGGTTTG	0.373000													2	1					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705072	56705072	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:56705072G>A	ENST00000273308.4	-	4	871	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	111	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TCTCCATTCCGGCCCACTACA	0.522000													96	111					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852696	31852696	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr6:31852696G>A	ENST00000395728.3	-	18	2611	c.2612C>T	c.(2611-2613)aCt>aTt	p.T871I	EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I|EHMT2_ENST00000375537.4_Missense_Mutation_p.T814I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	814					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						CACGTTGTCAGTGAGGGTGAC	0.632000													3	40					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441217	52441217	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr3:52441217C>G	ENST00000460680.1	-	7	1024	c.553G>C	c.(553-555)Ggg>Cgg	p.G185R	BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	185					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCTTCAGCCCATCCAGCTCA	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							20	0					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8953441	8953441	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:8953441C>T	ENST00000256707.3	-	5	512	c.331G>A	c.(331-333)Gca>Aca	p.A111T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	111					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGTAACATGCCCACATAAGA	0.373000													4	194					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413000			Mis		myelodysplastic syndrome								28	30					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2																						CAAAAACAAAACCCTAGATATT	0.421													2	4	---	---	---	---					
AC018737.1	0	broad.mit.edu	37	2	122466740	122466740	+	RNA	DEL	T	T	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:122466740delT	ENST00000419902.1	+	0	637					NR_037857.1																						ttttttgttgttttttttttg	0.463													3	4	---	---	---	---					
DDX50	79009	broad.mit.edu	37	10	70661179	70661179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr10:70661179delG	ENST00000373585.3	+	1	146	c.39delG	c.(37-39)ctgfs	p.L13fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	13						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTATGGAGCTGGAAGCACCCT	0.657													2	4	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr19:39019604_39019606delAGG	ENST00000355481.4	+	75	11164_11166	c.11033_11035delAGG	c.(11032-11037)caggag>cag	p.E3684del	RYR1_ENST00000359596.3_In_Frame_Del_p.E3689del|RYR1_ENST00000360985.3_In_Frame_Del_p.E3689del	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGggagcaggaggaggagga	0.576													3	6	---	---	---	---					
MAGEC3	139081	broad.mit.edu	37	X	140984758	140984758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chrX:140984758delA	ENST00000298296.1	+	7	1214	c.1214delA	c.(1213-1215)cagfs	p.Q405fs	MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	405	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					atctctccccagggtcctccg	0.582													2	4	---	---	---	---					
