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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
EHMT2	10919	broad.mit.edu	hg19	6	31852696	31852696	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.632	0	62.0	51.0	55.0	6	31852696	2203	4300	6503	SO:0001583	missense	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8	8457211, 11316813	Standard	XM_005274833	Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000395728.3:c.2612C>T	6.37:g.31852696G>A	ENSP00000379078:p.Thr871Ile	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	ENST00000395728.3	37		.	.	.	.	.	.	.	.	.	.	G	14.18	2.457173	0.43634	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.44	4.44	0.53790	Ankyrin repeat-containing domain (3);	0.488062	0.20352	N	0.094021	T	0.35595	0.0937	L	0.31157	0.91	0.32015	N	0.601567	B;B;B;B	0.30236	0.274;0.232;0.274;0.274	B;B;B;B	0.34346	0.18;0.113;0.18;0.18	T	0.29792	-1.0000	10	0.37606	T	0.19	.	11.5827	0.50900	0.0:0.0:0.8214:0.1786	.	837;780;814;628	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	871;837;780;814;628	ENSP00000379078:T871I;ENSP00000364678:T837I;ENSP00000364680:T780I;ENSP00000364687:T814I	ENSP00000364678:T837I	T	-	2	0	EHMT2	31960675	0.000000	0.05858	0.984000	0.44739	0.954000	0.61252	0.427000	0.21379	2.466000	0.83321	0.650000	0.86243	ACT	EHMT2-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000268526.1		-1.610168	0	-14	69	0	0	1	0	NM_006709	3	6.608511	40	0.069767
FLRT1	23769	broad.mit.edu	hg19	11	63884416	63884416	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.657	0	35.0	33.0	34.0	11	63884416	2201	4296	6497	SO:0001583	missense	AF169675	CCDS8057.1	11q13.1	2014-03-03					"""Fibronectin type III domain containing"""	3760	protein-coding gene	gene with protein product		604806			10644439, 24482476	Standard	NM_013280	Approved	MGC21624, SPG68	uc001nyi.1	Q9NZU1		ENST00000246841.3:c.677G>A	11.37:g.63884416G>A	ENSP00000246841:p.Arg226His	Q8WVA2	ENST00000246841.3	37	CCDS8057.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786658	0.70337	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.56	4.64	0.57946	.	0.344321	0.30575	N	0.009332	T	0.70422	0.3222	M	0.75085	2.285	0.49130	D	0.999758	D	0.89917	1.0	D	0.69479	0.964	T	0.72561	-0.4256	10	0.46703	T	0.11	-25.1721	14.6397	0.68714	0.0:0.0:0.8529:0.1471	.	198	Q9NZU1	FLRT1_HUMAN	H	226	ENSP00000246841:R226H	ENSP00000246841:R226H	R	+	2	0	FLRT1	63640992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.852000	0.86927	1.323000	0.45263	0.555000	0.69702	CGC	FLRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396287.2		16.041685	0	-5	25	0	0	1	0	NM_013280	6	16.906797	15	0.285714
PIK3R5	23533	broad.mit.edu	hg19	17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.662	0	54.0	60.0	58.0	17	8789831	2203	4300	6503	SO:0001583	missense	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506		30035	protein-coding gene	gene with protein product		611317			12507995	Standard	NM_014308	Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1997C>T	17.37:g.8789831G>A	ENSP00000392812:p.Ala666Val	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744802	0.49151	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.81499	-1.5	4.78	3.73	0.42828	.	0.115341	0.64402	D	0.000018	D	0.83714	0.5314	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.72032	D	0.01	-17.27	14.0102	0.64490	0.0:0.1527:0.8473:0.0	.	666	Q8WYR1	PI3R5_HUMAN	V	666	ENSP00000392812:A666V	ENSP00000269300:A666V	A	-	2	0	PIK3R5	8730556	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	6.068000	0.71201	2.199000	0.70637	0.313000	0.20887	GCC	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		-3.817266	0	-9	39	0	0	1	0	NM_014308	3	6.306143	47	0.060000
TPCN1	53373	broad.mit.edu	hg19	12	113723746	113723746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.587	0	160.0	135.0	143.0	12	113723746	2203	4300	6503	SO:0001587	stop_gained	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815	"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666			10574461, 10753632, 16382101	Standard	XM_005253905	Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000392569.4:c.1302C>G	12.37:g.113723746C>G	ENSP00000376350:p.Tyr434*	A7E258|Q86XS9|Q8NC20	ENST00000392569.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.937682|5.937682	0.97122|0.97122	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000546781|ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	.|.	.|.	.|.	4.76|4.76	2.5|2.5	0.30297|0.30297	.|.	.|0.067384	.|0.64402	.|D	.|0.000008	T|.	0.22666|.	0.0547|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33752|.	-0.9856|.	3|.	.|0.02654	.|T	.|1	-22.7386|-22.7386	9.8195|9.8195	0.40874|0.40874	0.0:0.7401:0.0:0.2599|0.0:0.7401:0.0:0.2599	.|.	.|.	.|.	.|.	V|X	171|502;574;574;434	.|.	.|ENSP00000335300:Y502X	L|Y	+|+	1|3	0|2	TPCN1|TPCN1	112208129|112208129	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.881000|0.881000	0.50899|0.50899	0.913000|0.913000	0.28611|0.28611	1.055000|1.055000	0.40461|0.40461	0.591000|0.591000	0.81541|0.81541	CTT|TAC	TPCN1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000405159.1		136.042785	0	-34	56	0	0	1	0	NM_017901	39	137.233524	21	0.650000
BAP1	8314	broad.mit.edu	hg19	3	52441217	52441217	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.592	0	67.0	65.0	66.0	3	52441217	2203	4300	6503	SO:0001583	missense	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.553G>C	3.37:g.52441217C>G	ENSP00000417132:p.Gly185Arg	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265133	0.95399	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	D;D;D	0.83250	-1.7;-1.7;-1.7	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95573	0.8640	10	0.87932	D	0	-6.6922	20.6086	0.99469	0.0:1.0:0.0:0.0	.	185	Q92560	BAP1_HUMAN	R	185;185;106	ENSP00000417132:G185R;ENSP00000296288:G185R;ENSP00000417776:G106R	ENSP00000296288:G185R	G	-	1	0	BAP1	52416257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.880000	0.98712	0.655000	0.94253	GGG	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		74.335962	0	-33	41	0	0	1	0		20	74.335961	0	1.000000
FBXL17	64839	broad.mit.edu	hg19	5	107216757	107216757	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.413	0	193.0	171.0	179.0	5	107216757	2202	4300	6502	SO:0001583	missense	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13		Standard	NM_001163315	Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000359660.5:c.752G>T	5.37:g.107216757C>A	ENSP00000352683:p.Gly251Val	A1A4E3	ENST00000359660.5	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.339445	0.81911	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02421	4.3;4.3;4.3	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00041	-1.2232	10	0.59425	D	0.04	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	649;251	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	V	251;649;251	ENSP00000352683:G251V;ENSP00000437464:G649V;ENSP00000418111:G251V	ENSP00000352683:G251V	G	-	2	0	FBXL17	107244656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.459000	0.80802	2.824000	0.97209	0.655000	0.94253	GGG	FBXL17-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000357305.3		133.269028	1	-9	121	0	4.10826e-27	1	4.31367e-27		44	135.144598	76	0.366667
LUZP1	7798	broad.mit.edu	hg19	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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		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	0.468	2	188.0	179.0	182.0	1	23418835	2203	4300	6503	SO:0001819	synonymous_variant	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641		14985	protein-coding gene	gene with protein product		601422			8812416	Standard	NM_033631	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T		Q5TH93|Q8N4X3|Q8TEH1	ENST00000302291.4	37	CCDS30628.1																																																																																			LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-18.997514	0	-72	164	0	0	1	0	NM_033631	4	7.506798	109	0.035398
RP11-47I22.4	0	broad.mit.edu	hg19	14	61997175	61997175	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.517	0	227.0	191.0	203.0	14	61997175	2203	4300	6503	SO:0001583	missense																									ENST00000556347.1:c.137C>A	14.37:g.61997175C>A	ENSP00000452401:p.Ala46Glu		ENST00000556347.1	37		.	.	.	.	.	.	.	.	.	.	C	8.251	0.808913	0.16537	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.63	-6.63	0.01807	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	3.2251	0.06729	0.2075:0.2466:0.0728:0.4731	.	.	.	.	E	46	.	.	A	+	2	0	RP11-47I22.4	61066928	0.000000	0.05858	0.488000	0.27440	0.843000	0.47879	-5.643000	0.00107	-0.944000	0.03686	-0.145000	0.13849	GCG	RP11-47I22.4-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000413996.1		-37.321223	1	-24	135	0	1	1	1		4	7.039049	171	0.022857
APC	324	broad.mit.edu	hg19	5	112179702	112179702	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	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	0.488	1	87.0	90.0	89.0	5	112179702	2202	4300	6502	SO:0001583	missense	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""		1651563	Standard	NM_001127511	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8411A>C	5.37:g.112179702A>C	ENSP00000413133:p.Gln2804Pro	D3DT03|Q15162|Q15163|Q93042	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876930	0.33162	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.81247	-1.47;-1.47;-1.47	5.92	5.92	0.95590	EB-1 binding (1);	0.059812	0.64402	D	0.000001	D	0.83788	0.5330	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.71674	0.998;0.998	D;D	0.75020	0.943;0.985	T	0.82770	-0.0293	9	.	.	.	-8.164	16.3662	0.83325	1.0:0.0:0.0:0.0	.	2806;2804	Q4LE70;P25054	.;APC_HUMAN	P	2804	ENSP00000413133:Q2804P;ENSP00000257430:Q2804P;ENSP00000427089:Q2804P	.	Q	+	2	0	APC	112207601	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.085000	0.64468	2.274000	0.75844	0.533000	0.62120	CAG	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		140.078230	0	-22	52	0	0	1	0	NM_000038	45	140.247565	37	0.548780
CNPY2	10330	broad.mit.edu	hg19	12	56705072	56705072	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.522	0	223.0	206.0	212.0	12	56705072	2203	4300	6503	SO:0001583	missense	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727		13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4	10072769, 15905959	Standard	NM_001190991	Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.331C>T	12.37:g.56705072G>A	ENSP00000273308:p.Arg111Trp	B2R7B9|Q9UHE9	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821989	0.90873	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.03	5.03	0.67393	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65150	-0.6238	10	0.37606	T	0.19	-12.0587	16.232	0.82352	0.0:0.0:1.0:0.0	.	111	Q9Y2B0	CNPY2_HUMAN	W	111;111;111;59	ENSP00000446743:R111W;ENSP00000273308:R111W;ENSP00000448809:R111W;ENSP00000446784:R59W	ENSP00000273308:R111W	R	-	1	2	RP11-977G19.10;CNPY2	54991339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.373000	0.66162	2.521000	0.84997	0.561000	0.74099	CGG	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1		308.891984	0	-75	147	0	0	1	0	NM_014255	96	309.127241	111	0.463768
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	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	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		42.813087	0	-25	56	0	0	1	0	NM_002067	15	43.918574	30	0.333333
SF3B1	23451	broad.mit.edu	hg19	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	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	0.413	19	116.0	116.0	116.0	2	198267360	2203	4300	6503	SO:0001583	missense	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524		10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""		9585501	Standard	XM_005246428	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	SF3B1	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		88.893370	0	-21	48	0	0	1	0		28	88.908523	30	0.482759
KIDINS220	57498	broad.mit.edu	hg19	2	8953441	8953441	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0.373	0	152.0	140.0	144.0	2	8953441	1891	4132	6023	SO:0001583	missense	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759			10998417, 10574462	Standard	NM_020738	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.331G>A	2.37:g.8953441C>T	ENSP00000256707:p.Ala111Thr	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208718	0.95069	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	D;D;D;D;D;D	0.86956	-2.19;-2.19;-1.56;-2.19;-2.19;-2.19	6.06	5.17	0.71159	Ankyrin repeat-containing domain (3);	0.099710	0.64402	D	0.000002	D	0.95101	0.8413	M	0.93150	3.385	0.80722	D	1	P;D;D	0.76494	0.565;0.995;0.999	B;D;D	0.74023	0.341;0.97;0.982	D	0.96291	0.9214	10	0.87932	D	0	.	16.1848	0.81942	0.1344:0.8656:0.0:0.0	.	111;69;111	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	T	111;111;69;111;111;111	ENSP00000256707:A111T;ENSP00000411849:A111T;ENSP00000414923:A69T;ENSP00000418974:A111T;ENSP00000419964:A111T;ENSP00000319947:A111T	ENSP00000256707:A111T	A	-	1	0	KIDINS220	8870892	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.525000	0.67110	1.530000	0.49136	0.650000	0.86243	GCA	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		-43.968834	0	-36	110	0	0	1	0	NM_020738	4	7.121035	194	0.020202
DDX50	79009	broad.mit.edu	hg19	10	70661179	70661179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0	24.0	22.0	23.0	10	70661179	2196	4289	6485	SO:0001589	frameshift_variant	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625	"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373			11891046	Standard	NM_024045	Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.39delG	10.37:g.70661179delG	ENSP00000362687:p.Leu13fs	Q5VX37|Q8WV76|Q9BWI8	ENST00000373585.3	37	CCDS7283.1																																																																																			DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	.	.		-7	7					NM_024045	2		4	0.33
MAGEC3	139081	broad.mit.edu	hg19	X	140984758	140984758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	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	0	27.0	25.0	26.0	X	140984758	2202	4292	6494	SO:0001589	frameshift_variant	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509		23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469			10861452	Standard	NM_138702	Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1214delA	X.37:g.140984758delA	ENSP00000298296:p.Gln405fs	Q3SYA7|Q5JZ43|Q9BZ80	ENST00000298296.1	37	CCDS14676.1																																																																																			MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	.	.		-8	7					NM_138702	2		4	0.33