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
M1AP	130951	broad.mit.edu	hg19	2	74842189	74842189	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr2:74842189C>G	ENST00000290536.5	-	3	444	c.328G>C	c.(328-330)Gct>Cct	p.A110P	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.A110P|M1AP_ENST00000536235.1_Missense_Mutation_p.A110P	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein												CGCAGAGAAGCACCTTGTGAT	0.502	0	197.0	174.0	181.0	2	74842189	2203	4300	6503	SO:0001583	missense		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374		25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65	16881047, 23269666	Standard	NM_138804	Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000409585.1:c.328G>C	2.37:g.74842189C>G	ENSP00000386793:p.Ala110Pro	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	ENST00000409585.1	37		.	.	.	.	.	.	.	.	.	.	C	14.74	2.624203	0.46840	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.77	-9.22	0.00675	.	1.171000	0.05923	N	0.633807	T	0.16514	0.0397	L	0.36672	1.1	0.09310	N	0.999999	B;P;B	0.40875	0.118;0.731;0.118	B;B;B	0.38616	0.059;0.277;0.059	T	0.28681	-1.0036	10	0.38643	T	0.18	-2.0647	2.7063	0.05163	0.2482:0.4203:0.1161:0.2154	.	110;110;110	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	P	110	ENSP00000290536:A110P;ENSP00000386793:A110P;ENSP00000445662:A110P;ENSP00000414882:A110P	ENSP00000290536:A110P	A	-	1	0	C2orf65	74695697	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-0.281000	0.08456	-0.854000	0.04131	-0.438000	0.05819	GCT	M1AP-002	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000328570.1		126.826207	0	-13	72	0	0	1	0	NM_138804	39	126.852242	36	0.520000
BCOR	54880	broad.mit.edu	hg19	X	39932447	39932447	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:39932447C>G	ENST00000342274.4	-	4	2514	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	BCOR_ENST00000397354.3_Missense_Mutation_p.D718H|BCOR_ENST00000378455.4_Missense_Mutation_p.D718H|BCOR_ENST00000378444.4_Missense_Mutation_p.D718H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	718		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126					CCCAGGGCATCTTGGTAGGTC	0.557	0	49.0	48.0	49.0	X	39932447	2202	4300	6502	SO:0001583	missense	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""		10898795	Standard	NM_017745	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2152G>C	X.37:g.39932447C>G	ENSP00000367705:p.Asp718His	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078170	0.55753	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.71	5.71	0.89125	.	.	.	.	.	T	0.37945	0.1022	L	0.29908	0.895	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.19778	-1.0295	9	0.87932	D	0	-25.3251	18.8012	0.92018	0.0:1.0:0.0:0.0	.	718;718;718;718	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	718;718;718;718;718;125	ENSP00000367716:D718H;ENSP00000380512:D718H;ENSP00000367705:D718H;ENSP00000345923:D718H;ENSP00000384485:D718H	ENSP00000345923:D718H	D	-	1	0	BCOR	39817391	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.460000	0.66691	2.385000	0.81259	0.513000	0.50165	GAT	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		93.570187	0	-29	59	0	0	1	0	NM_017745	29	93.633969	25	0.537037
TTLL13	440307	broad.mit.edu	hg19	15	90799479	90799479	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:90799479C>T	ENST00000438251.1	+	6	945	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.R219W			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	219	TTL.	protein modification process		ATP binding|tubulin-tyrosine ligase activity	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		CCGAAATCCCCGGGAGATCAA	0.557	0	103.0	95.0	98.0	15	90799479	2199	4298	6497	SO:0001583	missense	BC036668		15q26.1	2013-02-14				ENSG00000213471	"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product					15890843	Standard	NR_104604	Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.655C>T	15.37:g.90799479C>T	ENSP00000345294:p.Arg219Trp		ENST00000339615.5	37	CCDS32328.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472290	0.63737	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.08102	3.13;3.13	5.09	1.93	0.25924	.	0.625953	0.15602	N	0.253857	T	0.19685	0.0473	L	0.54323	1.7	0.21933	N	0.999462	D	0.64830	0.994	D	0.66716	0.946	T	0.03945	-1.0990	10	0.87932	D	0	.	8.7396	0.34550	0.5396:0.3177:0.1427:0.0	.	219	A6NNM8-2	.	W	219	ENSP00000413362:R219W;ENSP00000345294:R219W	ENSP00000345294:R219W	R	+	1	2	TTLL13	88600483	0.951000	0.32395	0.868000	0.34077	0.992000	0.81027	2.108000	0.41854	0.227000	0.20999	0.491000	0.48974	CGG	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1		104.407757	0	-12	69	0	0	1	0	NM_001029964	28	104.407757	0	1.000000
DEPDC5	9681	broad.mit.edu	hg19	22	32215199	32215199	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr22:32215199A>G	ENST00000400246.1	+	22	2000	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A	DEPDC5_ENST00000536766.1_Missense_Mutation_p.T592A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T620A			O75140	DEPD5_HUMAN	DEP domain containing 5	620		intracellular signal transduction			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63					CTGGATGCACACTTTTCCTGT	0.557	0	97.0	96.0	96.0	22	32215199	1995	4179	6174	SO:0001583	missense	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150		18423	protein-coding gene	gene with protein product		614191			23542697, 23542701	Standard	NM_001242896	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1858A>G	22.37:g.32215199A>G	ENSP00000371546:p.Thr620Ala	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.97|18.97	3.734977|3.734977	0.69189|0.69189	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T|T;T;T;T;T;T;T;T;T	0.70516|0.32272	-0.49|1.53;1.46;1.87;1.86;1.85;1.48;1.86;1.85;1.86	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47563|0.47563	0.1452|0.1452	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.996;0.982;0.998;0.999;0.997	.|D;D;D;D;P;D	.|0.80764	.|0.989;0.987;0.952;0.994;0.907;0.985	T|T	0.39820|0.39820	-0.9595|-0.9595	7|10	0.87932|0.07030	D|T	0|0.85	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|620;592;620;620;620;620	.|B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	R|A	17|620;592;620;620;620;620;620;620;620;620	ENSP00000410544:H17R|ENSP00000440210:T620A;ENSP00000441358:T592A;ENSP00000266091:T620A;ENSP00000383108:T620A;ENSP00000383105:T620A;ENSP00000371539:T620A;ENSP00000371546:T620A;ENSP00000371545:T620A;ENSP00000383107:T620A	ENSP00000410544:H17R|ENSP00000266091:T620A	H|T	+|+	2|1	0|0	DEPDC5|DEPDC5	30545199|30545199	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	9.179000|9.179000	0.94861|0.94861	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	CAC|ACT	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		109.457774	0	-30	43	0	0	1	0	NM_014662	34	109.461245	33	0.507463
TRPM6	140803	broad.mit.edu	hg19	9	77390841	77390841	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:77390841G>C	ENST00000451710.3	-	24	3598	c.3361C>G	c.(3361-3363)Cat>Gat	p.H1121D	TRPM6_ENST00000361255.3_Missense_Mutation_p.H1116D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1121D|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1116D|TRPM6_ENST00000360774.1_Missense_Mutation_p.H1121D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1121		response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126					GGAGCTCGATGACAGCACAGG	0.547	0	101.0	107.0	105.0	9	77390841	2203	4300	6503	SO:0001583	missense	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH	10021370, 12032570, 16382100	Standard	NM_017662	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3361C>G	9.37:g.77390841G>C	ENSP00000354006:p.His1121Asp	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	3.188	-0.166340	0.06461	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.54866	0.64;0.64;0.65;0.64;0.55	5.87	2.65	0.31530	.	0.459434	0.26258	N	0.025418	T	0.41673	0.1169	L	0.47716	1.5	0.09310	N	1	P;B;P	0.37233	0.453;0.037;0.588	B;B;B	0.31869	0.065;0.098;0.137	T	0.38090	-0.9677	10	0.66056	D	0.02	.	10.8779	0.46921	0.2296:0.0:0.7704:0.0	.	1121;1116;1116	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	D	1121;1121;1116;1116;1121;784;784	ENSP00000354006:H1121D;ENSP00000407341:H1121D;ENSP00000396672:H1116D;ENSP00000354962:H1116D;ENSP00000366060:H1121D	ENSP00000309693:H784D	H	-	1	0	TRPM6	76580661	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	1.555000	0.36277	0.844000	0.35094	-0.229000	0.12294	CAT	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		60.906783	0	-36	50	0	0	1	0	NM_017662	22	66.082672	67	0.247191
SF3B1	23451	broad.mit.edu	hg19	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		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)		TGTTGTGTTACGGACATACTC	0.438	12	95.0	92.0	93.0	2	198267483	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.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		41.638899	0	-8	47	0	0	1	0		14	42.548884	27	0.341463
CBX5	23468	broad.mit.edu	hg19	12	54651299	54651299	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr12:54651299C>T	ENST00000209875.4	-	2	272	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CBX5_ENST00000550411.1_Splice_Site_p.E46K|CBX5_ENST00000439541.2_Splice_Site_p.E46K	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	46	Chromo 1.	blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8					GGAACTTACTCAGAAAAGCCT	0.443	0	126.0	122.0	123.0	12	54651299	2203	4300	6503	SO:0001630	splice_region_variant	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916		1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""		8663349	Standard	NM_012117	Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.137+1G>A	12.37:g.54651299C>T		B2R8T9	ENST00000439541.2	37	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794832	0.90453	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.65	5.65	0.86999	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.049963	0.85682	D	0.000000	T	0.70842	0.3270	M	0.66439	2.03	0.80722	D	1	P;P	0.46784	0.884;0.662	B;B	0.40329	0.306;0.326	T	0.75952	-0.3136	10	0.72032	D	0.01	-18.9389	17.2626	0.87075	0.0:1.0:0.0:0.0	.	46;46	G3V1X9;P45973	.;CBX5_HUMAN	K	46	ENSP00000209875:E46K;ENSP00000401009:E46K;ENSP00000449207:E46K;ENSP00000450190:E46K	ENSP00000209875:E46K	E	-	1	0	CBX5	52937566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	GAG	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1		72.374164	0	18	89	0	0	1	0	NM_012117	25	73.127419	40	0.384615
CDKL5	6792	broad.mit.edu	hg19	X	18606258	18606258	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:18606258C>A	ENST00000379989.3	+	10	1024	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	CDKL5_ENST00000379996.3_Missense_Mutation_p.L247I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	247	Protein kinase.	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)				CTTCCATGGGCTCCGGGTAAG	0.398	0	137.0	134.0	135.0	X	18606258	2203	4300	6503	SO:0001583	missense	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086	"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9	9721213, 16935860	Standard	XM_005274584	Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.739C>A	X.37:g.18606258C>A	ENSP00000369325:p.Leu247Ile	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079688	0.36662	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.45276	0.9;0.9	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113441	0.64402	D	0.000007	T	0.27933	0.0688	N	0.11651	0.15	0.38775	D	0.954634	B	0.32409	0.37	B	0.38921	0.285	T	0.26916	-1.0089	10	0.38643	T	0.18	-14.4401	9.7296	0.40352	0.1401:0.7862:0.0:0.0736	.	247	O76039	CDKL5_HUMAN	I	247	ENSP00000369332:L247I;ENSP00000369325:L247I	ENSP00000369325:L247I	L	+	1	0	CDKL5	18516179	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	1.414000	0.34736	2.574000	0.86865	0.583000	0.79449	CTC	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		-40.470913	1	-33	172	0	1	1	1	NM_003159	4	6.841789	181	0.021622
GNAQ	2776	broad.mit.edu	hg19	9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					GGTGGGGACTCGAACTCTAAG	0.468	9	154.0	118.0	130.0	9	80412493	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.548G>A	9.37:g.80412493C>T	ENSP00000286548:p.Arg183Gln	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.263420	0.97421	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.91740	-2.9;-2.9	5.88	5.88	0.94601	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.98057	1.0391	10	0.87932	D	0	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	183	P50148	GNAQ_HUMAN	Q	183;154	ENSP00000286548:R183Q;ENSP00000391501:R154Q	ENSP00000286548:R183Q	R	-	2	0	GNAQ	79602313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.048000	0.71046	2.778000	0.95560	0.655000	0.94253	CGA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		180.805498	0	-6	52	0	0	1	0	NM_002072	55	181.345594	40	0.578947
ZNF560	147741	broad.mit.edu	hg19	19	9578390	9578390	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr19:9578390T>A	ENST00000301480.4	-	10	1446	c.1233A>T	c.(1231-1233)aaA>aaT	p.K411N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	411		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65					TACCAAAGGCTTTACCACATT	0.448	0	70.0	71.0	71.0	19	9578390	2203	4300	6503	SO:0001583	missense	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028	"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product						Standard	NM_152476	Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1233A>T	19.37:g.9578390T>A	ENSP00000301480:p.Lys411Asn	Q495S9|Q495T1	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.752932	0.69648	.	.	ENSG00000198028	ENST00000301480	T	0.27890	1.64	1.95	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61009	0.2313	M	0.93808	3.46	0.22926	N	0.99855	D	0.89917	1.0	D	0.91635	0.999	T	0.47724	-0.9095	9	0.72032	D	0.01	.	7.8162	0.29260	0.0:0.0:0.0:1.0	.	411	Q96MR9	ZN560_HUMAN	N	411	ENSP00000301480:K411N	ENSP00000301480:K411N	K	-	3	2	ZNF560	9439390	0.029000	0.19370	0.012000	0.15200	0.945000	0.59286	0.399000	0.20916	1.137000	0.42214	0.402000	0.26972	AAA	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1		48.825154	0	-36	27	0	0	1	0	NM_152476	15	48.825154	15	0.500000
CAP2	10486	broad.mit.edu	hg19	6	17541321	17541321	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr6:17541321C>A	ENST00000229922.2	+	9	1476	c.944C>A	c.(943-945)tCt>tAt	p.S315Y	CAP2_ENST00000465994.1_Missense_Mutation_p.S251Y|CAP2_ENST00000489374.1_Missense_Mutation_p.S203Y|CAP2_ENST00000378990.2_Missense_Mutation_p.S289Y|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	315		activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)		TCTCCTAAATCTTATCCTTCT	0.453	0	151.0	133.0	139.0	6	17541321	2203	4300	6503	SO:0001583	missense	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186		20039	protein-coding gene	gene with protein product					7962207, 8761950	Standard	NM_006366	Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.944C>A	6.37:g.17541321C>A	ENSP00000229922:p.Ser315Tyr	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	c	11.87	1.766995	0.31320	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.09350	3.0;2.99;2.99;2.99	5.56	5.56	0.83823	.	0.396544	0.29892	N	0.010930	T	0.06781	0.0173	L	0.42245	1.32	0.23483	N	0.997584	P;P;P;P	0.49447	0.924;0.566;0.773;0.731	B;B;B;B	0.44085	0.44;0.197;0.212;0.243	T	0.06752	-1.0809	10	0.62326	D	0.03	-17.6776	14.3707	0.66838	0.1571:0.8429:0.0:0.0	.	203;251;289;315	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	Y	315;232;203;289;251	ENSP00000229922:S315Y;ENSP00000417705:S203Y;ENSP00000368275:S289Y;ENSP00000418604:S251Y	ENSP00000229922:S315Y	S	+	2	0	CAP2	17649300	0.000000	0.05858	0.111000	0.21465	0.323000	0.28346	0.949000	0.29109	2.775000	0.95449	0.563000	0.77884	TCT	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		80.273409	1	-14	81	0	7.01153e-11	1	7.74959e-11		28	81.977679	53	0.345679
FGF7	2252	broad.mit.edu	hg19	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152		actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	ACACATATGCATCAGCTAAAT	0.338	1	55.0	53.0	54.0	15	49776572	2037	3875	5912	SO:0001819	synonymous_variant	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285	"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""		7749227, 1409637	Standard	NM_002009	Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C		H0YNY5|Q6FGV5|Q96FG5	ENST00000267843.4	37	CCDS10131.1																																																																																			FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3		-3.620512	0	-24	72	0	0	1	0	NM_002009	3	7.326170	50	0.056604
OR2D3	120775	broad.mit.edu	hg19	11	6943043	6943043	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr11:6943043G>A	ENST00000317834.3	+	1	839	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	271		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	CTATGGGTCAGGAATATTCAC	0.443	0	108.0	105.0	106.0	11	6943043	2201	4296	6497	SO:0001583	missense	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358	"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product						Standard	NM_001004684	Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.811G>A	11.37:g.6943043G>A	ENSP00000320560:p.Gly271Arg	B2RP06|Q6IFG8|Q96R51	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520525	0.44866	.	.	ENSG00000178358	ENST00000317834	T	0.00158	8.65	4.95	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15627	N	0.252605	T	0.00384	0.0012	M	0.82056	2.57	0.22266	N	0.99925	D	0.53462	0.96	P	0.60609	0.877	T	0.42447	-0.9451	10	0.66056	D	0.02	-0.9209	7.7915	0.29123	0.1848:0.0:0.8152:0.0	.	271	Q8NGH3	OR2D3_HUMAN	R	271	ENSP00000320560:G271R	ENSP00000320560:G271R	G	+	1	0	OR2D3	6899619	0.000000	0.05858	0.993000	0.49108	0.234000	0.25298	0.513000	0.22770	1.463000	0.47967	0.655000	0.94253	GGA	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1		142.299221	0	-14	78	0	0	1	0	NM_001004684	44	142.301692	43	0.505747
KATNB1	10300	hgsc.bcm.edu	hg19	16	57789768	57789768	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3																										GGTGGACTCCGCTGTGGCCAT	0.637	0	71.0	66.0	67.0	16	57789768	2198	4300	6498	SO:0001583	missense	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854	"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""		9568719	Standard	XM_006721121	Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1582G>T	16.37:g.57789768G>T	ENSP00000368982:p.Ala528Ser		ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462701	0.84425	.	.	ENSG00000140854	ENST00000379661	T	0.58506	0.33	5.06	5.06	0.68205	.	0.048537	0.85682	D	0.000000	T	0.74374	0.3708	M	0.85197	2.74	0.58432	D	0.999999	D	0.53885	0.963	P	0.54856	0.762	T	0.80046	-0.1546	10	0.72032	D	0.01	-12.4735	17.4143	0.87495	0.0:0.0:1.0:0.0	.	528	Q9BVA0	KTNB1_HUMAN	S	528	ENSP00000368982:A528S	ENSP00000368982:A528S	A	+	1	0	KATNB1	56347269	1.000000	0.71417	0.113000	0.21522	0.538000	0.34931	7.564000	0.82326	2.371000	0.80710	0.561000	0.74099	GCT	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3				0	29						4		23	
NRK	203447	broad.mit.edu	hg19	X	105199570	105199570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:105199570delT	ENST00000428173.2	+	29	5033	c.4730delT	c.(4729-4731)ctcfs	p.L1577fs	NRK_ENST00000540278.1_Frame_Shift_Del_p.L157fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.L1576fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1576				ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76					CTTGAAGAGCTCCAAAGCAAT	0.373	0	79.0	64.0	69.0	X	105199570	1822	4073	5895	SO:0001589	frameshift_variant	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572		25391	protein-coding gene	gene with protein product		300791				Standard	NM_198465	Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4727delT	X.37:g.105199570delT	ENSP00000434830:p.Leu1576fs	Q32ND6|Q5H9K2|Q6ZMP2	ENST00000243300.9	37																																																																																				NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	.	.		3	12					NM_198465	2		4	0.33
SPOCD1	90853	broad.mit.edu	hg19	1	32258997	32258999	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr1:32258997_32258999delGCA	ENST00000360482.2	-	13	2694_2696	c.2565_2567delTGC	c.(2563-2568)gctgca>gca	p.855_856AA>A	SPOCD1_ENST00000533231.1_In_Frame_Del_p.855_856AA>A|SPOCD1_ENST00000257100.3_In_Frame_Del_p.348_349AA>A|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	855		transcription, DNA-dependent			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)	CTTTGTGGGTGCAGCAGGCACAT	0.635	0									SO:0001651	inframe_deletion	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668		26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""				12477932	Standard	NM_144569	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2565_2567delTGC	1.37:g.32259000_32259002delGCA	ENSP00000353670:p.Ala856del	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	ENST00000360482.2	37	CCDS347.1																																																																																			SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	.	.		3	7					NM_144569	2		4	0.33
EVPLL	645027	broad.mit.edu	hg19	17	18286814	18286814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr17:18286814delG	ENST00000399134.4	+	9	1147	c.789delG	c.(787-789)cagfs	p.Q263fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	263					NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5					AGGCCCACCAGGAGGCCCTGA	0.692	0	38.0	35.0	36.0	17	18286814	692	1591	2283	SO:0001589	frameshift_variant		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860		35236	protein-coding gene	gene with protein product						Standard	NM_001145127	Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.789delG	17.37:g.18286814delG	ENSP00000382086:p.Gln263fs	B4DPD4	ENST00000399134.4	37	CCDS45626.1																																																																																			EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	.	.		0	10					NM_001145127	2		4	0.33