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
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													2	12					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6367996	6367996	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr17:6367996C>T	ENST00000262483.8	-	15	2073	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	ACKR6_ENST00000421306.3_Missense_Mutation_p.M626I|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TCAGAGCCACCATGTCGAGGG	0.622000													8	28					0	0	1	0	0
P2RY10	0	broad.mit.edu	37	X	78216608	78216608	+	Silent	SNP	G	G	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:78216608G>T	ENST00000171757.2	+	4	871	c.591G>T	c.(589-591)ggG>ggT	p.G197G	P2RY10_ENST00000544091.1_Silent_p.G197G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	197						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGTTGGTCGGGATGATTACAG	0.453000													3	43					1	1	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	74					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089600	86089600	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr14:86089600G>A	ENST00000330753.4	+	2	2509	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R581Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	581					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATACAACCGGGGCCGGCGG	0.517000													4	118					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88486541	88486541	+	Silent	SNP	C	C	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr12:88486541C>T	ENST00000552810.1	-	29	3721	c.3378G>A	c.(3376-3378)gtG>gtA	p.V1126V	CEP290_ENST00000547691.2_Silent_p.V186V|CEP290_ENST00000309041.7_Silent_p.V1128V|CEP290_ENST00000397838.3_Silent_p.V186V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1126					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTGCCTTGCTCACACTATCAG	0.358000													3	94					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24357867	24357867	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr6:24357867C>T	ENST00000378454.3	-	1	413	c.112G>A	c.(112-114)Gag>Aag	p.E38K	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	38	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACCTTCTTCTCATGGATGACG	0.642000													10	43					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44437073	44437073	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr21:44437073C>A	ENST00000291547.5	+	6	789	c.578C>A	c.(577-579)gCg>gAg	p.A193E	PKNOX1_ENST00000432907.2_Missense_Mutation_p.A76E	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	193							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTGGTGCCGGCGTCCGCGCTG	0.512000													3	53					0.115264	0.122468	1	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713152	142713152	+	RNA	SNP	T	T	G	rs142135372	by1000genomes	TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr1:142713152T>G	ENST00000369381.2	-	0	1453																											TGCTGTTCAATGCACGGATTT	0.368000													3	46					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	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				10	36					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110385387	110385387	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:110385387T>G	ENST00000519681.1	+	6	681	c.239T>G	c.(238-240)aTt>aGt	p.I80S	PAK3_ENST00000446737.1_Missense_Mutation_p.I80S|PAK3_ENST00000425146.1_Missense_Mutation_p.I80S|PAK3_ENST00000372007.4_Missense_Mutation_p.I80S|PAK3_ENST00000372010.1_Missense_Mutation_p.I80S|PAK3_ENST00000417227.1_Missense_Mutation_p.I80S|PAK3_ENST00000262836.4_Missense_Mutation_p.I80S|PAK3_ENST00000360648.4_Missense_Mutation_p.I80S|PAK3_ENST00000518291.1_Missense_Mutation_p.I80S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	80	Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAGCATACGATTCATGTGGGG	0.398000										TSP Lung(19;0.15)			3	64					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596319	58596319	+	Silent	SNP	G	G	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr19:58596319G>A	ENST00000240727.6	-	7	1665	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	ZSCAN18_ENST00000601144.1_Silent_p.F422F|ZSCAN18_ENST00000421612.2_Silent_p.F286F|ZSCAN18_ENST00000600404.1_Silent_p.F478F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	422					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAGCCACGCGAAGGCCTCCC	0.716000													3	8					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	29					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)del	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													2	4	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149501110	149501110	+	RNA	DEL	G	G	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:149501110delG	ENST00000378016.2	+	0	8246							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667													2	4	---	---	---	---					
PTGDR2	11251	broad.mit.edu	37	11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)del	p.R343del		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	343					immune response	integral to plasma membrane	N-formyl peptide receptor activity										TGGAGGAGGTGCGGCGGCGGCGG	0.749													2	4	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)tcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													7	111	---	---	---	---					
NIPA1	123606	broad.mit.edu	37	15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcc>gc	p.AA15del	NIPA1_ENST00000561183.1_Intron|NIPA1_ENST00000437912.2_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													3	3	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr16:19580800_19580802delTCC	ENST00000438132.3	+	3	487_489	c.439_441delTCC	c.(439-441)del	p.S153del	C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													9	87	---	---	---	---					
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggg>gg	p.GG80del	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---					
