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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC285359	285359	broad.mit.edu	37	3	101431934	101431934	+	RNA	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:101431934G>A	uc003dvj.3	+	0		c.657G>A								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		AATTATGATGGACCTGGAGGA	0.473000														67			5		0	0	0.029380	0	0
MICALCL	84953	broad.mit.edu	37	11	12315446	12315446	+	Silent	SNP	A	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:12315446A>G	uc001mkg.1	+	2	759	c.468A>G	c.(466-468)aaA>aaG	p.K156K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	156					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACCGGGAAAAAGGGAGTACTG	0.562000														37			3		0	0	0.115264	0	0
HIC2	23119	broad.mit.edu	37	22	21799992	21799992	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr22:21799992G>A	uc002zur.4	+	2	1038	c.808G>A	c.(808-810)Gca>Aca	p.A270T	HIC2_uc002zus.4_Missense_Mutation_p.A270T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	270					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCCCGATGACGCAGCCCAGCT	0.672000														162			4		0	0	0.014758	0	0
MYO18A	399687	broad.mit.edu	37	17	27434129	27434129	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:27434129C>T	uc002hdt.1	-	19	3568	c.3410G>A	c.(3409-3411)gGg>gAg	p.G1137E	MYO18A_uc010wbc.1_Missense_Mutation_p.G679E|MYO18A_uc002hds.2_Missense_Mutation_p.G679E|MYO18A_uc010csa.1_Missense_Mutation_p.G1137E|MYO18A_uc002hdu.1_Missense_Mutation_p.G1137E|MYO18A_uc010wbd.1_Missense_Mutation_p.G806E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1137	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTACGCCCGTGTTTCTT	0.612000														119			41		0	0	0.139131	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44028017	44028017	+	Missense_Mutation	SNP	G	A	A	rs141895414		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:44028017G>A	uc002rtl.3	+	8	795	c.695G>A	c.(694-696)cGt>cAt	p.R232H	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.R231H|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.R105H|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.R105H	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	231						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAAAAATACGTGGAGTTATC	0.313000														37			5		0	0	0.021553	0	0
FAHD2A	51011	broad.mit.edu	37	2	96071501	96071501	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:96071501G>A	uc002sur.3	+	1	374	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	65							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TCCCGAAGACGATGACGCAGT	0.617000														27			7		0	0	0.047766	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000														31			3		0	0	0.014758	0	0
UNC5A	90249	broad.mit.edu	37	5	176289826	176289826	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:176289826G>A	uc003mey.3	+	1	464	c.272G>A	c.(271-273)cGc>cAc	p.R91H	UNC5A_uc003mex.1_Missense_Mutation_p.R91H|UNC5A_uc010jkg.1_5'UTR	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	91	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATCGAGCGCAGCACAGAC	0.677000														321			5		0	0	0.029380	0	0
GLI1	2735	broad.mit.edu	37	12	57861814	57861814	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:57861814G>A	uc001snx.3	+	9	1209	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	GLI1_uc021qzi.1_Missense_Mutation_p.R331H|GLI1_uc009zpq.3_Missense_Mutation_p.R244H	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	372					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGCACCAAACGCTATACAGAT	0.542000														91			10		0	0	0.080935	0	0
MST1P2	11209	broad.mit.edu	37	1	16974243	16974243	+	RNA	SNP	G	C	C	rs142213352	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16974243G>C	uc009vow.2	+	4		c.1053G>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GATCTCAGCTGTCGCTCGGGG	0.652000														35			5		0	0	0.029380	0	0
OR10A4	283297	broad.mit.edu	37	11	6898019	6898019	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:6898019C>G	uc010rat.2	+	0	164	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCATCATCCTGGTCACTA	0.453000														125			9		0	0	0.069234	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881347	1881347	+	Silent	SNP	A	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:1881347A>G	uc002luf.3	-	1	625	c.219T>C	c.(217-219)cgT>cgC	p.R73R	FAM108A1_uc002lud.3_Silent_p.R73R|FAM108A1_uc002lue.3_Silent_p.R73R|FAM108A1_uc002lug.3_Silent_p.R73R	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	73						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTCGGCACGCTCCGTCA	0.716000														71			4		0	0	0.021553	0	0
OR51E1	143503	broad.mit.edu	37	11	4674358	4674358	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:4674358A>C	uc021qcq.1	+	0	602	c.602A>C	c.(601-603)tAt>tCt	p.Y201S	OR51E1_uc001lzi.4_Missense_Mutation_p.Y201S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGTCGTCTATGGCCTTATC	0.493000														136			4		0	0	0.014758	0	0
PAX6	5080	broad.mit.edu	37	11	31816308	31816308	+	Silent	SNP	T	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:31816308T>C	uc009yjr.3	-	7	1021	c.552A>G	c.(550-552)ggA>ggG	p.G184G	PAX6_uc001mtd.4_Silent_p.G184G|PAX6_uc001mte.4_Silent_p.G184G|PAX6_uc001mtg.4_Silent_p.G198G|PAX6_uc001mtf.4_Silent_p.G184G|PAX6_uc001mth.4_Silent_p.G184G|PAX6_uc021qfl.1_Silent_p.G198G|PAX6_uc021qfm.1_Silent_p.G198G|PAX6_uc021qfn.1_Silent_p.G184G	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	184	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TGGTATTCTCTCCCCCTCCTT	0.463000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					80			3		0	0	0.014758	0	0
PSD3	23362	broad.mit.edu	37	8	18432755	18432755	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr8:18432755A>G	uc003wza.3	-	12	2625	c.2522T>C	c.(2521-2523)tTg>tCg	p.L841S	PSD3_uc003wyx.4_Missense_Mutation_p.L170S|PSD3_uc003wyy.3_Missense_Mutation_p.L307S|PSD3_uc003wyz.3_Missense_Mutation_p.L142S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	842	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCGTTTTTCAAGTCCTCTTC	0.418000														69			3		0	0	0.115264	0	0
ACE	1636	broad.mit.edu	37	17	61557164	61557164	+	Silent	SNP	C	T	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:61557164C>T	uc002jau.2	+	3	580	c.546C>T	c.(544-546)taC>taT	p.Y182Y	ACE_uc010wpi.2_Silent_p.Y182Y|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	182	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592000														164			7		0	0	0.058154	0	0
MAPK7	5598	broad.mit.edu	37	17	19283952	19283952	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19283952C>G	uc002gvn.3	+	3	816	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.L5V|MAPK7_uc002gvq.3_Missense_Mutation_p.L144V|MAPK7_uc002gvp.3_Missense_Mutation_p.L144V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	144	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGAAAGCGACCTGCACCAGAT	0.582000														91			14		0	0	0.043863	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														38			4		0	0	0.029380	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352610	16352610	+	Silent	SNP	A	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16352610A>G	uc001axu.3	+	4	446	c.366A>G	c.(364-366)ggA>ggG	p.G122G	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.G79G|CLCNKA_uc001axv.3_Silent_p.G122G|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	122					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAGGTTCTGGAATCCCGGAGC	0.552000														338			49		0	0	0.139131	0	0
PRSS12	8492	broad.mit.edu	37	4	119252936	119252936	+	Silent	SNP	T	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr4:119252936T>G	uc003ica.2	-	3	953	c.906A>C	c.(904-906)ggA>ggC	p.G302G		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	302	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CACAAACGGTTCCCCACTGGC	0.527000														155			9		0	0	0.058154	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118633	118633	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrGL000209.1:118633G>C	uc010yie.2	+	2	121	c.110G>C	c.(109-111)cGc>cCc	p.R37P	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R34P|KIR2DL2_uc002qum.3_Missense_Mutation_p.R37P	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	37			R -> P (in dbSNP:rs613240).		regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCCAGGTCGCCTGGTGAAA	0.488000														180			5		0	0	0.014758	0	0
DLG1	1739	broad.mit.edu	37	3	196812552	196812552	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:196812552G>A	uc010ial.3	-	16	2095	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	DLG1_uc011bub.2_Silent_p.I496I|DLG1_uc011buc.2_Silent_p.I496I|DLG1_uc011bud.2_Silent_p.I295I|DLG1_uc003fxo.4_Silent_p.I612I|DLG1_uc003fxn.4_Silent_p.I612I|DLG1_uc011bue.2_Silent_p.I579I|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Silent_p.I579I	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	612	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TAACATGGAGGATATCTCCAA	0.448000														97			6		0	0	0.021553	0	0
MAPK7	5598	broad.mit.edu	37	17	19284535	19284535	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19284535C>T	uc002gvn.3	+	3	1399	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	MAPK7_uc002gvo.3_Missense_Mutation_p.A199V|MAPK7_uc002gvq.3_Missense_Mutation_p.A338V|MAPK7_uc002gvp.3_Missense_Mutation_p.A338V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	338	Necessary for oligomerization (By similarity).|Poly-Ala.|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGCATCTCAGCAGCTGCTGCC	0.622000														72			6		0	0	0.021553	0	0
XIRP1	165904	broad.mit.edu	37	3	39227182	39227182	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:39227182G>A	uc003cjk.2	-	1	3984	c.3755C>T	c.(3754-3756)gCc>gTc	p.A1252V	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.A1252V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1252	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAACAAAGGCATTATGGGG	0.622000														25			10		0	0	0.058154	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														92			5		0	0	0.014758	0	0
CAPN2	824	broad.mit.edu	37	1	223900426	223900426	+	Silent	SNP	C	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:223900426C>G	uc001hob.4	+	0	308	c.84C>G	c.(82-84)ctC>ctG	p.L28L	CAPN2_uc010puy.2_Intron	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	28					proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAAGTACCTCAACCAGGACT	0.716000														16			9		0	0	0.093190	0	0
OR2T12	127064	broad.mit.edu	37	1	248458716	248458716	+	Silent	SNP	C	T	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248458716C>T	uc010pzj.2	-	0	165	c.165G>A	c.(163-165)agG>agA	p.R55R		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H54Y(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGTACATGGGCCTGTGGAGCC	0.527000														30			8		0	0	0.080935	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									58			21		0	0	0.083992	0	0
TJP1	7082	broad.mit.edu	37	15	30001004	30001004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:30001004G>A	uc001zcr.3	-	24	5084	c.4609C>T	c.(4609-4611)Cga>Tga	p.R1537*	TJP1_uc010azl.3_Nonsense_Mutation_p.R1525*|TJP1_uc001zcq.3_Nonsense_Mutation_p.R1461*|TJP1_uc001zcs.3_Nonsense_Mutation_p.R1457*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1537					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.R1537R(3)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCAAATGGTCGGGCAGAACTT	0.403000														160			71		0	0	0.139131	0	0
TFEB	7942	broad.mit.edu	37	6	41658430	41658430	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:41658430G>A	uc021yzl.1	-	1	641	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	TFEB_uc003oqs.1_Silent_p.L147L|TFEB_uc003oqt.1_Silent_p.L147L|TFEB_uc003oqu.1_Silent_p.L147L|TFEB_uc003oqv.1_Silent_p.L147L|TFEB_uc010jxo.1_Silent_p.L147L|TFEB_uc003oqx.1_Silent_p.L147L|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Silent_p.L147L	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	147					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A214A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCAATGTGCAGCATGGCCATG	0.642000			T	ALPHA	renal (childhood epithelioid)									59			3		0	0	0.115264	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390463G>A	uc011dvx.2	+	2	402	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_uc011dvy.2_Silent_p.Q64Q|RUNX2_uc003oxt.3_Silent_p.Q50Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000														34			4		0	0	0.014758	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000														284			5		0	0	0.069234	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														385			6		0	0	0.080935	0	0
KDM1B	221656	broad.mit.edu	37	6	18218071	18218071	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:18218071T>G	uc003nco.1	+	13	1806	c.1731T>G	c.(1729-1731)gaT>gaG	p.D577E	KDM1B_uc003ncn.1_Missense_Mutation_p.D548E|KDM1B_uc003ncp.1_Missense_Mutation_p.D133E|KDM1B_uc003ncq.1_Missense_Mutation_p.D133E	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	780					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGGCCTACGATATCATTGCTG	0.438000														81			4		0	0	0.150653	0	0
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:53116804G>A	uc002pzu.4	-	1	2258	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_uc002pzv.4_Silent_p.I338I|ZNF83_uc010eps.3_Silent_p.I310I|ZNF83_uc010ept.3_Silent_p.I338I|ZNF83_uc010epu.3_Silent_p.I338I|ZNF83_uc010epw.3_Silent_p.I338I|ZNF83_uc010epv.3_Silent_p.I338I|ZNF83_uc010epx.3_Silent_p.I310I|ZNF83_uc010epy.3_Silent_p.I338I|ZNF83_uc010epz.3_Silent_p.I310I|ZNF83_uc010eqb.2_Silent_p.I310I|ZNF83_uc021uyx.1_Silent_p.I338I	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(2)|p.R337K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000														113			4		0	0	0.150653	0	0
RASL11A	387496	broad.mit.edu	37	13	27847183	27847183	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr13:27847183A>T	uc001urd.1	+	3	899	c.281A>T	c.(280-282)cAg>cTg	p.Q94L		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	94	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AGCCTCCCCCAGGTCGTCGAT	0.498000														124			4		0	0	0.150653	0	0
MLL2	8085	broad.mit.edu	37	12	49443673	49443673	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:49443673T>C	uc001rta.4	-	10	3698	c.3698A>G	c.(3697-3699)gAg>gGg	p.E1233G		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1233					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T1233S(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCACCCCCCTCCGGGTCTGG	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				86			3		0	0	0.150653	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000														64			4		0	0	0.150653	0	0
ATRX	546	broad.mit.edu	37	X	76814188	76814188	+	Nonsense_Mutation	SNP	A	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrX:76814188A>C	uc004ecp.4	-	28	6688	c.6456T>G	c.(6454-6456)taT>taG	p.Y2152*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Y2114*|ATRX_uc004eco.4_Nonsense_Mutation_p.Y1937*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2152	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCCAAAGCGATAAACTCTGA	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							36			7		0	0	0.058154	0	0
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	A	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248084484G>A	uc010pzc.2	+	0	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522000														111			4		0	0	0.119110	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														40			4		0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	A	A	rs28934576	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				10			15		1.5739e-10	1.60251e-10	0.146539	1	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043861	26043861	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:26043861G>C	uc003nfu.3	-	0	25	c.25C>G	c.(25-27)Cca>Gca	p.P9A	HIST1H3C_uc003nfv.3_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA.	9					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGGGGCTGGAGCAGACTTA	0.458000														46			4		0	0	0.150653	0	0
GCNT3	9245	broad.mit.edu	37	15	59911328	59911328	+	Silent	SNP	G	A	A	rs139760962		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:59911328G>A	uc002age.3	+	2	1340	c.891G>A	c.(889-891)gcG>gcA	p.A297A	GCNT3_uc002agd.3_Silent_p.A297A|GCNT3_uc021smz.1_Silent_p.A297A	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	297					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGGAATGCGTACATTGTGG	0.408000														146			21		0	0	0.083992	0	0
CASZ1	54897	broad.mit.edu	37	1	10699141	10699146	+	In_Frame_Del	DEL	TCGTCG	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:10699141_10699146delTCGTCG	uc001aro.3	-	20	5453_5458	c.5133_5138delCGACGA	c.(5131-5139)gacgacgag>gag	p.DD1711del		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1711	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.D1711_D1712delDD(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCGCAGgtcctcgtcgtcgtcgtcct	0.752													---	6	---	---	7	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:28800272_28800273insC	uc001bpy.3	+	5	1295_1296	c.1060_1061insC	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Ins_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Ins_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													---	447	---	---	7	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:67390426delT	uc001dcx.3	-	0	145	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_uc001dcy.3_Frame_Shift_Del_p.K30fs|MIER1_uc001dda.4_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													---	222	---	---	7	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	3	802_804	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													---	52	---	---	7	---					
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	In_Frame_Del	DEL	CCT	-	-	rs113134648		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:26422388_26422390delCCT	uc011dkl.1	+	0	72_74	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L19del	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		GGCCAGCCTCCCTCCTCCTCCTC	0.586													---	429	---	---	17	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													---	381	---	---	8	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													---	118	---	---	7	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	-	-	rs112966887		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr8:101721933delT	uc003yjs.1	-	7	1503	c.999delA	c.(997-999)aaafs	p.K333fs	PABPC1_uc011lhc.1_Frame_Shift_Del_p.K301fs|PABPC1_uc011lhd.1_Frame_Shift_Del_p.K288fs|PABPC1_uc003yjt.1_Frame_Shift_Del_p.K330fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													---	52	---	---	8	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1445A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	225	---	---	7	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	-	-	rs66529359	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	uc001sau.1	-	8	1715_1735	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y	KRT1_uc001sav.1_Splice_Site_p.G556_splice	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(6)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													---	4	---	---	3	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr13:100635008_100635010delCCA	uc001von.3	+	0	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	239	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		H -> HH.|Missing.		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													---	116	---	---	7	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													---	175	---	---	7	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:39346425_39346427delGTG	uc021txf.1	+	0	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP4-1_uc010cxm.1_Intron	NM_001190460	NP_001177389	A8MXZ3	KRA91_HUMAN	Homo sapiens keratin associated protein 9-1 (KRTAP9-1), mRNA.	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													---	39	---	---	8	---					
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr18:24128262_24128264delTCC	uc010xbj.2	-	0	237_239	c.237_239delGGA	c.(235-240)gaggac>gac	p.E79del	KCTD1_uc002kvw.3_Intron|KCTD1_uc010xbk.2_Intron	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.690													---	5	---	---	3	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	113	---	---	11	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	-	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrY:10037863delC	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													---	73	---	---	9	---					
