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
TRIM62	55223	broad.mit.edu	hg19	1	33612880	33612880	+	Silent	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:33612880G>A	ENST00000291416.5	-	5	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	TRIM62_ENST00000543586.1_Silent_p.R321R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	442	B30.2/SPRY.		intracellular	zinc ion binding	endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)			GGAACTTCTCGCGGAAGGTGT	0.557	0	108.0	95.0	99.0	1	33612880	2203	4300	6503	SO:0001819	synonymous_variant	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""		19536326	Standard	NM_018207	Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1326C>T	1.37:g.33612880G>A		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	ENST00000291416.5	37	CCDS376.1																																																																																			TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1		59.187085	0	-2	60	0	0	1	0	NM_018207	20	59.478982	28	0.416667
FANCD2	2177	broad.mit.edu	hg19	3	10140562	10140562	+	Silent	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr3:10140562T>C	ENST00000287647.3	+	43	4437	c.4344T>C	c.(4342-4344)agT>agC	p.S1448S	FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1448		DNA repair|response to gamma radiation	nucleoplasm	protein binding	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)	TTGTTCTAAGTTGGTGGAGCA	0.423	0	186.0	169.0	175.0	3	10140562	2203	4300	6503	SO:0001819	synonymous_variant	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	7581463, 11239453, 18475298	Standard	XM_005264946	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.4344T>C	3.37:g.10140562T>C		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	ENST00000287647.3	37	CCDS2595.1																																																																																			FANCD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250562.2		91.392936	0	-18	100	0	0	1	0		28	91.722533	38	0.424242
WISP1	8840	broad.mit.edu	hg19	8	134239886	134239886	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:134239886G>A	ENST00000250160.6	+	5	1143	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000517423.1_3'UTR	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	346	CTCK.	cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)		AACCTGAGCTGTAGGAATCCC	0.493	0	156.0	124.0	135.0	8	134239886	2203	4300	6503	SO:0001583	missense	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415		12769	protein-coding gene	gene with protein product		603398			9843955	Standard	NM_003882	Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.1037G>A	8.37:g.134239886G>A	ENSP00000250160:p.Cys346Tyr	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	ENST00000250160.6	37	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730316	0.89390	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.93	5.93	0.95920	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99505	1.0954	10	0.87932	D	0	-26.2814	19.3291	0.94278	0.0:0.0:1.0:0.0	.	101;174;259;346	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	Y	346;101;174;259	ENSP00000250160:C346Y;ENSP00000429185:C101Y;ENSP00000367094:C174Y;ENSP00000220856:C259Y	ENSP00000220856:C259Y	C	+	2	0	WISP1	134309068	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.773000	0.98989	2.814000	0.96858	0.655000	0.94253	TGT	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		54.474395	0	-24	57	0	0	1	0	NM_003882	20	56.478725	44	0.312500
ALDH2	217	broad.mit.edu	hg19	12	112230450	112230450	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:112230450G>C	ENST00000261733.2	+	9	1008	c.947G>C	c.(946-948)gGc>gCc	p.G316A	ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	316		carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					TTCAACCAGGGCCAGTGCTGC	0.632	0	30.0	28.0	29.0	12	112230450	2203	4300	6503	SO:0001583	missense	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650			4015823, 2987944	Standard	NM_000690	Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.947G>C	12.37:g.112230450G>C	ENSP00000261733:p.Gly316Ala	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	ENST00000261733.2	37	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025251	0.75390	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.65549	-0.16;-0.16	5.75	4.86	0.63082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.043918	0.85682	N	0.000000	D	0.88607	0.6482	H	0.99619	4.66	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.977;1.0	D	0.93524	0.6864	10	0.87932	D	0	.	14.979	0.71299	0.0684:0.0:0.9316:0.0	.	269;240;316	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	A	269;316;240;176	ENSP00000403349:G269A;ENSP00000261733:G316A	ENSP00000261733:G316A	G	+	2	0	ALDH2	110714833	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.363000	0.97131	1.435000	0.47434	0.655000	0.94253	GGC	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1		18.947008	0	1	18	0	0	1	0	NM_000690	6	19.078214	9	0.400000
MSS51	118490	broad.mit.edu	hg19	10	75186442	75186442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr10:75186442C>T	ENST00000299432.2	-	4	490	c.425G>A	c.(424-426)tGg>tAg	p.W142*	MSS51_ENST00000372912.1_Nonsense_Mutation_p.W142*	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	142				zinc ion binding							GTGTGCGGGCCAGTCTGACTT	0.478	0	160.0	143.0	149.0	10	75186442	2203	4300	6503	SO:0001587	stop_gained	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343	"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17	19710419	Standard	NM_001024593	Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.425G>A	10.37:g.75186442C>T	ENSP00000362003:p.Trp142*	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809603	0.90707	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	.	.	.	5.72	4.82	0.62117	.	0.125208	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2455	12.5431	0.56184	0.0:0.9195:0.0:0.0805	.	.	.	.	X	142	.	ENSP00000299432:W142X	W	-	2	0	ZMYND17	74856448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.568000	0.67385	1.427000	0.47276	0.650000	0.86243	TGG	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		118.536490	0	-37	95	0	0	1	0	NM_178451	38	118.950458	51	0.426966
CSMD3	114788	broad.mit.edu	hg19	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:114448977T>A	ENST00000297405.5	-	1	351	c.107A>T	c.(106-108)aAg>aTg	p.K36M	CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36			integral to membrane|plasma membrane		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646					CCCCATTTTCTTCATCAGGAT	0.507	0	160.0	163.0	162.0	8	114448977	2203	4300	6503	SO:0001583	missense	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796		19291	protein-coding gene	gene with protein product		608399				Standard	NM_052900	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.107A>T	8.37:g.114448977T>A	ENSP00000297405:p.Lys36Met	Q96PZ3	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566535	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26223	2.09;1.75;2.09	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.24122	0.0584	N	0.08118	0	0.27776	N	0.943335	P;D;D;P	0.69078	0.891;0.995;0.997;0.826	P;P;P;P	0.60415	0.73;0.847;0.874;0.541	T	0.05767	-1.0865	10	0.46703	T	0.11	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	M	36	ENSP00000297405:K36M;ENSP00000412263:K36M;ENSP00000343124:K36M	ENSP00000297405:K36M	K	-	2	0	CSMD3	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		-16.159774	0	-7	129	0	0	1	0	NM_052900	6	11.854962	122	0.046875
PKP3	11187	ucsc.edu	hg19	11	396622	396622	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf																										ATCCAGGGGGCAGTACCACAC	0.647	0	68.0	49.0	55.0	11	396622	2200	4296	6496	SO:0001583	missense	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363	"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561			10374265	Standard	XM_005252760	Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.247C>A	11.37:g.396622C>A	ENSP00000331678:p.Gln83Lys	F8J390|Q53EX8	ENST00000331563.2	37	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	13.62	2.291589	0.40494	.	.	ENSG00000184363	ENST00000331563;ENST00000531857	T	0.78707	-1.2	3.5	3.5	0.40072	.	.	.	.	.	T	0.59636	0.2208	N	0.22421	0.69	0.32377	N	0.555099	B	0.09022	0.002	B	0.08055	0.003	T	0.54146	-0.8337	9	0.05833	T	0.94	-17.2863	10.7288	0.46085	0.0:1.0:0.0:0.0	.	83	Q9Y446	PKP3_HUMAN	K	83;25	ENSP00000331678:Q83K	ENSP00000331678:Q83K	Q	+	1	0	PKP3	386622	0.269000	0.24143	0.875000	0.34327	0.455000	0.32408	2.972000	0.49256	1.999000	0.58509	0.306000	0.20318	CAG	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1				0	36					NM_007183	4		15	
DEDD	9191	broad.mit.edu	hg19	1	161092816	161092816	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:161092816T>C	ENST00000392188.1	-	5	863	c.629A>G	c.(628-630)tAt>tGt	p.Y210C	DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000368006.3_Intron|DEDD_ENST00000545495.1_Intron|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C			O75618	DEDD_HUMAN	death effector domain containing	194		apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)		CAGTTCTTTATATTCTCCTTC	0.478	0	106.0	102.0	103.0	1	161092816	2203	4300	6503	SO:0001583	missense	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796		2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""		9774341, 9832420	Standard	XM_005245597	Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368005.1:c.629A>G	1.37:g.161092816T>C	ENSP00000356984:p.Tyr210Cys	D3DVF5|O60737	ENST00000368005.1	37		.	.	.	.	.	.	.	.	.	.	T	5.226	0.227117	0.09916	.	.	ENSG00000158796	ENST00000392188;ENST00000368005	.	.	.	3.53	-2.9	0.05648	.	3.295540	0.01151	U	0.006438	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24297	-1.0164	8	0.38643	T	0.18	.	9.2184	0.37362	0.0:0.5916:0.0:0.4084	.	210	B1AQP5	.	C	210	.	ENSP00000356984:Y210C	Y	-	2	0	DEDD	159359440	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.657000	0.05335	-0.487000	0.06735	-0.589000	0.04120	TAT	DEDD-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000080583.1		134.901207	0	-10	113	0	0	1	0	NM_004216	40	134.901207	40	0.500000
NLRP3	114548	broad.mit.edu	hg19	1	247582115	247582115	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:247582115C>T	ENST00000366497.2	+	2	799	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	7	DAPIN.	detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		GGCAAGCACCCGCTGCAAGCT	0.527	0	43.0	45.0	44.0	1	247582115	2203	4300	6503	SO:0001583	missense	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1	10741953	Standard	NM_183395	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.19C>T	1.37:g.247582115C>T	ENSP00000337383:p.Arg7Cys	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669103	0.67814	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.150326	0.30565	N	0.009356	T	0.65154	0.2664	M	0.68317	2.08	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.973;0.982;0.973;1.0	T	0.67643	-0.5618	10	0.66056	D	0.02	.	12.8787	0.58003	0.0:1.0:0.0:0.0	.	7;7;7;7;7	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	7	ENSP00000375704:R7C;ENSP00000355453:R7C;ENSP00000337383:R7C;ENSP00000294752:R7C;ENSP00000355452:R7C;ENSP00000375703:R7C	ENSP00000337383:R7C	R	+	1	0	NLRP3	245648738	0.910000	0.30920	0.951000	0.38953	0.743000	0.42351	1.560000	0.36331	2.498000	0.84270	0.561000	0.74099	CGC	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		21.387716	0	-7	37	0	0	1	0	NM_004895	8	23.030468	23	0.258065
PHRF1	57661	broad.mit.edu	hg19	11	609063	609063	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:609063C>T	ENST00000264555.5	+	14	3735	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1203				RNA polymerase binding|zinc ion binding	breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28					GGAGGCTTCCCCAGCGCCCCT	0.701	0	8.0	10.0	10.0	11	609063	1978	4115	6093	SO:0001583	missense	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047	"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221		Standard	XM_005253027	Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000416188.2:c.3604C>T	11.37:g.609063C>T	ENSP00000410626:p.Pro1202Ser	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	ENST00000416188.2	37	CCDS44507.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940513	0.52972	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81078	-1.44;-1.44;-1.45;-1.45	4.42	2.42	0.29668	.	0.585786	0.14227	N	0.332962	T	0.77870	0.4195	L	0.29908	0.895	0.09310	N	1	D;B;B;B	0.58268	0.982;0.123;0.123;0.075	P;B;B;B	0.54664	0.758;0.039;0.039;0.017	T	0.66476	-0.5914	10	0.52906	T	0.07	-7.2646	8.9007	0.35493	0.169:0.668:0.163:0.0	.	1199;1201;1202;1203	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	1203;1201;1202;1199	ENSP00000264555:P1203S;ENSP00000388589:P1201S;ENSP00000410626:P1202S;ENSP00000431870:P1199S	ENSP00000264555:P1203S	P	+	1	0	PHRF1	599063	0.057000	0.20700	0.011000	0.14972	0.050000	0.14768	1.411000	0.34702	0.423000	0.26033	0.462000	0.41574	CCA	PHRF1-008	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398149.1		6.650023	0	8	26	0	0	1	0	NM_020901	2	6.650023	2	0.500000
SNX20	124460	broad.mit.edu	hg19	16	50707379	50707379	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr16:50707379G>A	ENST00000330943.4	-	4	1060	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297		cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15					GTGGGCCTCCGGAGCTGGCTC	0.662	0	38.0	42.0	41.0	16	50707379	2192	4297	6489	SO:0001583	missense	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208	"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281			18196517, 16782399	Standard	NM_182854	Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.889C>T	16.37:g.50707379G>A	ENSP00000332062:p.Arg297Trp	A8K9D5|Q08E98|Q6P4H2|Q8IV59	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134001	0.77662	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.33216	1.42	5.67	5.67	0.87782	.	0.593626	0.16759	N	0.200718	T	0.46425	0.1392	L	0.60455	1.87	0.29623	N	0.846035	D	0.76494	0.999	P	0.57720	0.826	T	0.47156	-0.9139	10	0.66056	D	0.02	-34.8905	12.575	0.56359	0.0:0.0:0.7916:0.2083	.	297	Q7Z614	SNX20_HUMAN	W	297;133	ENSP00000332062:R297W	ENSP00000332062:R297W	R	-	1	2	SNX20	49264880	0.055000	0.20627	0.717000	0.30585	0.897000	0.52465	2.229000	0.42990	2.676000	0.91093	0.561000	0.74099	CGG	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2		81.444387	0	-26	67	0	0	1	0	NM_153337	26	81.579307	32	0.448276
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	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		71.353393	0	-21	60	0	0	1	0	NM_002067	22	71.440422	18	0.550000
DNAH17	8632	broad.mit.edu	hg19	17	76570918	76570918	+	Silent	SNP	G	G	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:76570918G>T	ENST00000389840.5	-	2	346	c.222C>A	c.(220-222)tcC>tcA	p.S74S	DNAH17_ENST00000585328.1_Silent_p.S74S					dynein, axonemal, heavy chain 17						NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		AAACCCCTTTGGACTTGAGGG	0.567	0	122.0	130.0	127.0	17	76570918	2026	4180	6206	SO:0001819	synonymous_variant	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1	9545504	Standard	NM_173628	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.222C>A	17.37:g.76570918G>T		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	ENST00000585328.1	37																																																																																				DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		-2.615396	1	-23	58	0	0.115264	1	0.115264	NM_173628	3	6.959699	45	0.062500
RP11-64J4.2	0	broad.mit.edu	hg19	17	3214840	3214840	+	RNA	DEL	T	T	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:3214840delT	ENST00000573491.1	-	0	359																					CTCCCACCTCTTTTCCAGCTC	0.532	0																																				17.37:g.3214840delT			ENST00000573491.1	37																																																																																				RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1	.	.		-8	5						2		4	0.33
PPP5C	5536	broad.mit.edu	hg19	19	46893539	46893539	+	Splice_Site	DEL	A	A	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:46893539delA	ENST00000012443.4	+	13	1540		c.e13-1		PPP5C_ENST00000391919.1_Splice_Site	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit			mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	CTGGTCCCACAGCCTCATCCC	0.642	0	87.0	63.0	71.0	19	46893539	2202	4297	6499	SO:0001630	splice_region_variant		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5	8666404	Standard	NM_006247	Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000391919.1:c.1054-1A>-	19.37:g.46893539delA		Q16722|Q53XV2	ENST00000391919.1	37																																																																																				PPP5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000258970.1	.	.		3	5					NM_006247	2		4	0.33
SYNE2	23224	broad.mit.edu	hg19	14	64686021	64686022	+	Frame_Shift_Ins	INS	-	-	C	rs148199074	by1000genomes	TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr14:64686021_64686022insC	ENST00000357395.3	+	110	19983_19984	c.8839_8840insC	c.(8839-8841)gccfs	p.A2947fs	SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.A6562fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	TGATATCAGCGCCATCACTACT	0.426	1									SO:0001589	frameshift_variant	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654		17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442			10231032, 10878022	Standard	NM_182910	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.19434dupC	14.37:g.64686023_64686023dupC	ENSP00000452570:p.Ala6478fs	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	ENST00000554584.1	37																																																																																				SYNE2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000411905.1	.	.		10	71					NM_182914	21		30	0.41