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
ZNF518B	85460	broad.mit.edu	hg19	4	10444852	10444852	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr4:10444852C>T	ENST00000326756.3	-	3	3539	c.3101G>A	c.(3100-3102)tGt>tAt	p.C1034Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1034		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42					CTTAAATACACACTGTGAAGA	0.393	0	114.0	106.0	109.0	4	10444852	2203	4300	6503	SO:0001583	missense	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163	"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product					11214970	Standard	XM_005248193	Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.3101G>A	4.37:g.10444852C>T	ENSP00000317614:p.Cys1034Tyr	Q96LN8	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224291	0.58668	.	.	ENSG00000178163	ENST00000326756	T	0.01685	4.69	6.06	6.06	0.98353	.	0.250043	0.36303	N	0.002673	T	0.04724	0.0128	L	0.43152	1.355	0.29957	N	0.819761	D	0.64830	0.994	P	0.52672	0.706	T	0.02632	-1.1131	10	0.87932	D	0	-15.7531	15.1281	0.72497	0.0:0.8593:0.1407:0.0	.	1034	Q9C0D4	Z518B_HUMAN	Y	1034	ENSP00000317614:C1034Y	ENSP00000317614:C1034Y	C	-	2	0	ZNF518B	10053950	0.915000	0.31059	0.992000	0.48379	0.704000	0.40688	2.137000	0.42130	2.882000	0.98803	0.655000	0.94253	TGT	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		50.228912	0	12	91	0	0	1	0	NM_053042	18	52.087051	40	0.310345
ERBB4	2066	broad.mit.edu	hg19	2	212484000	212484000	+	Splice_Site	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr2:212484000C>A	ENST00000342788.4	-	19	2513	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase.	cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	ACCCAAATACCCTTTGGGGAA	0.338	0	73.0	73.0	73.0	2	212484000	2203	4300	6503	SO:0001630	splice_region_variant	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568		3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""		7700649, 17018285	Standard	NM_001042599	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2203-1G>T	2.37:g.212484000C>A		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260008|5.260008	0.95368|0.95368	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|D	0.86694|0.90676	-2.16;-2.16;-2.16|-2.71	4.91|4.91	4.91|4.91	0.64330|0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.95389|0.95389	0.8503|0.8503	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	D|D	0.96085|0.96085	0.9057|0.9057	10|7	0.87932|0.87932	D|D	0|0	.|.	18.0478|18.0478	0.89338|0.89338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	725;725;735;735|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	C|N	735;735;725|724	ENSP00000342235:G735C;ENSP00000403204:G735C;ENSP00000385565:G725C|ENSP00000260943:K724N	ENSP00000342235:G735C|ENSP00000260943:K724N	G|K	-|-	1|3	0|2	ERBB4|ERBB4	212192245|212192245	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.568000|0.568000	0.35870|0.35870	7.426000|7.426000	0.80270|0.80270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GGT|AAG	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		24.498962	1	1	46	0	0.000673444	1	0.000705513	NM_001042599	11	27.543429	36	0.234043
ZNF525	170958	ucsc.edu	hg19	19	53884788	53884788	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264																										AGACATAGGAGAATTCATACT	0.398	0									SO:0001583	missense	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326	"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product					11853319	Standard	NR_003699	Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000474037.1:c.956G>A	19.37:g.53884788G>A	ENSP00000417696:p.Arg319Lys	Q8TF23	ENST00000474037.1	37		.	.	.	.	.	.	.	.	.	.	G	7.623	0.677296	0.14841	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.18338	4.4;4.4;2.22	1.81	-0.703	0.11261	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	1	P	0.36125	0.538	B	0.38264	0.269	T	0.22208	-1.0223	8	0.49607	T	0.09	.	6.5247	0.22295	0.277:0.0:0.723:0.0	.	37	Q8N782	ZN525_HUMAN	K	319;283;37	ENSP00000417696:R319K;ENSP00000419136:R283K;ENSP00000408929:R37K	ENSP00000408929:R37K	R	+	2	0	ZNF525	58576600	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.878000	0.04192	-0.294000	0.08973	-0.708000	0.03648	AGA	ZNF525-002	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350552.1				4	76					NR_003699	4		18	
ALDH9A1	223	broad.mit.edu	hg19	1	165664619	165664619	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:165664619G>A	ENST00000354775.4	-	2	501	c.197C>T	c.(196-198)aCt>aTt	p.T66I	ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	42		carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				ACATGTGAAAGTAGCTATCAC	0.348	0	92.0	92.0	92.0	1	165664619	2203	4300	6503	SO:0001583	missense	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149	"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9	8112751, 8786138	Standard	NM_000696	Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.197C>T	1.37:g.165664619G>A	ENSP00000346827:p.Thr66Ile	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	ENST00000354775.4	37	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118569	0.37436	.	.	ENSG00000143149	ENST00000354775	T	0.77358	-1.09	5.44	3.46	0.39613	.	0.387023	0.31963	N	0.006792	T	0.60077	0.2241	L	0.59912	1.85	0.35257	D	0.779200	B;B	0.33964	0.307;0.434	B;B	0.36766	0.178;0.232	T	0.60156	-0.7318	9	0.40728	T	0.16	.	8.7029	0.34336	0.0845:0.1529:0.7626:0.0	.	56;66	B4DX14;B9EKV4	.;.	I	66	ENSP00000346827:T66I	ENSP00000346827:T66I	T	-	2	0	ALDH9A1	163931243	1.000000	0.71417	0.983000	0.44433	0.787000	0.44495	1.991000	0.40727	1.295000	0.44724	-0.140000	0.14226	ACT	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1		-8.332935	0	-14	93	0	0	1	0		3	6.514201	64	0.044776
ZNF511	118472	broad.mit.edu	hg19	10	135123360	135123360	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr10:135123360C>T	ENST00000359035.3	+	3	311	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M			Q8NB15	ZN511_HUMAN	zinc finger protein 511	103		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	CACTACCACACGCTGCACGGA	0.622	0	121.0	87.0	99.0	10	135123360	2203	4300	6503	SO:0001583	missense	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546	"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product					12477932	Standard	NM_145806	Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000361518.5:c.308C>T	10.37:g.135123360C>T	ENSP00000355251:p.Thr103Met	A8K8L5|Q8WUP1|Q96BV2	ENST00000361518.5	37	CCDS7677.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661848	0.47572	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88741	-2.42;-2.42;-2.42	5.2	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.362109	0.32106	N	0.006566	T	0.77877	0.4196	L	0.37897	1.145	0.25754	N	0.98502	P;B;P	0.40660	0.726;0.331;0.466	B;B;B	0.27380	0.079;0.023;0.071	T	0.67457	-0.5666	10	0.35671	T	0.21	-20.4314	8.0905	0.30797	0.0:0.7754:0.0:0.2246	.	103;38;103	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	M	103;103;38	ENSP00000355251:T103M;ENSP00000351929:T103M;ENSP00000357542:T38M	ENSP00000351929:T103M	T	+	2	0	ZNF511	134973350	0.788000	0.28762	0.978000	0.43139	0.928000	0.56348	2.397000	0.44477	0.586000	0.29626	0.650000	0.86243	ACG	ZNF511-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051142.1		58.116918	0	-17	57	0	0	1	0	NM_145806	19	58.493216	28	0.404255
PCDHGB4	0	broad.mit.edu	hg19	5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr5:140769318G>A	ENST00000519479.1	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1									endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCACGGGCGAAGTGCGCAC	0.697	0	32.0	38.0	36.0	5	140769318	2135	4249	6384	SO:0001583	missense	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953	"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058			10380929	Standard	NM_003736	Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1867G>A	5.37:g.140769318G>A	ENSP00000428288:p.Glu623Lys	O15099|Q2M267|Q9UN64	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953749	0.73902	.	.	ENSG00000253953	ENST00000519479	T	0.53206	0.63	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77246	0.4102	M	0.92459	3.31	0.31670	N	0.644471	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.83019	-0.0168	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	623;623	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	623	ENSP00000428288:E623K	ENSP00000428288:E623K	E	+	1	0	PCDHGB4	140749502	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	9.500000	0.97977	2.503000	0.84419	0.563000	0.77884	GAA	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		61.228755	0	-1	65	0	0	1	0	NM_003736	22	62.729195	43	0.338462
ZBTB11	27107	broad.mit.edu	hg19	3	101378836	101378836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:101378836G>A	ENST00000312938.4	-	6	2417	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	613		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37					AGATGTGCTCGCAAAGAGGCA	0.378	0	113.0	105.0	108.0	3	101378836	2203	4300	6503	SO:0001587	stop_gained	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422	"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product						Standard	NM_014415	Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1837C>T	3.37:g.101378836G>A	ENSP00000326200:p.Arg613*	Q2NKP9	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	45	11.599487	0.99581	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.7	2.86	0.33363	.	0.072564	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2099	14.9393	0.70980	0.0:0.0:0.6079:0.3921	.	.	.	.	X	613	.	ENSP00000326200:R613X	R	-	1	2	ZBTB11	102861526	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	3.952000	0.56691	0.307000	0.22880	0.484000	0.47621	CGA	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		-4.922114	0	-10	76	0	0	1	0	NM_014415	3	6.577676	52	0.054545
TLDC2	140711	broad.mit.edu	hg19	20	35507473	35507473	+	Silent	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr20:35507473C>T	ENST00000217320.3	+	3	263	c.219C>T	c.(217-219)acC>acT	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2												CAAGAGTCACCGGCCATCCCT	0.632	1	123.0	96.0	105.0	20	35507473	2203	4300	6503	SO:0001819	synonymous_variant	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342		16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118		Standard	NM_080628	Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.219C>T	20.37:g.35507473C>T		B3KVU8	ENST00000217320.3	37	CCDS33465.1																																																																																			TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2		-15.353407	0	-24	93	0	0	1	0	NM_080628	3	6.308178	88	0.032967
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	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		39.435348	0	-10	71	0	0	1	0	NM_002067	14	39.743357	21	0.400000
SNTN	132203	broad.mit.edu	hg19	3	63638463	63638463	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:63638463A>T	ENST00000496807.1	+	1	90	c.88A>T	c.(88-90)Atg>Ttg	p.M30L	SNTN_ENST00000343837.3_Missense_Mutation_p.M34L			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	34			cilium	calcium ion binding	endometrium(2)|ovary(1)	3					ACCTAGGAAAATGCCCAAAAG	0.448	0	95.0	77.0	83.0	3	63638463	2203	4300	6503	SO:0001583	missense	AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817		33706	protein-coding gene	gene with protein product	"""S100A-like protein"""				18829862	Standard	NM_001080537	Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000496807.1:c.88A>T	3.37:g.63638463A>T	ENSP00000419971:p.Met30Leu	B7FF65	ENST00000496807.1	37		.	.	.	.	.	.	.	.	.	.	A	13.07	2.126273	0.37533	.	.	ENSG00000188817	ENST00000343837;ENST00000469440;ENST00000496807	T	0.43294	0.95	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.68317	2.08	0.33196	D	0.551526	P	0.51147	0.942	D	0.67231	0.95	T	0.69978	-0.4998	10	0.44086	T	0.13	-15.0832	11.8253	0.52263	1.0:0.0:0.0:0.0	.	34	A6NMZ2	SNTAN_HUMAN	L	34;34;30	ENSP00000341442:M34L	ENSP00000341442:M34L	M	+	1	0	SNTN	63613503	0.999000	0.42202	0.994000	0.49952	0.564000	0.35744	4.461000	0.60115	2.113000	0.64589	0.482000	0.46254	ATG	SNTN-001	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352093.1		37.864714	0	-34	46	0	0	1	0	NM_001080537	13	38.476117	23	0.361111
MYO18B	84700	broad.mit.edu	hg19	22	26422803	26422803	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr22:26422803C>A	ENST00000335473.7	+	43	7113	c.6863C>A	c.(6862-6864)aCa>aAa	p.T2288K	MYO18B_ENST00000407587.2_Missense_Mutation_p.T2289K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2288			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146					GGGGCCTCCACACTAAGGAGG	0.642	0	17.0	21.0	20.0	22	26422803	1890	4101	5991	SO:0001583	missense	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295			12209013, 12547197	Standard	NM_032608	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6866C>A	22.37:g.26422803C>A	ENSP00000386096:p.Thr2289Lys	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.765044|2.765044	0.49574|0.49574	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87650	.|-2.26;-2.26;-2.28	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.49916	.|D	.|0.000122	D|D	0.84370|0.84370	0.5457|0.5457	L|L	0.54323|0.54323	1.7|1.7	0.25374|0.25374	N|N	0.988673|0.988673	.|B;B;B;B;B	.|0.33583	.|0.279;0.294;0.294;0.418;0.418	.|B;B;B;B;B	.|0.30855	.|0.052;0.057;0.057;0.121;0.121	T|T	0.80276|0.80276	-0.1450|-0.1450	5|10	.|0.72032	.|D	.|0.01	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1801;2290;2288;2289;2288	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	N|K	238|2288;2288;2289	.|ENSP00000441229:T2288K;ENSP00000334563:T2288K;ENSP00000386096:T2289K	.|ENSP00000334563:T2288K	H|T	+|+	1|2	0|0	MYO18B|MYO18B	24752803|24752803	0.005000|0.005000	0.15991|0.15991	0.552000|0.552000	0.28243|0.28243	0.662000|0.662000	0.39071|0.39071	2.103000|2.103000	0.41806|0.41806	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	CAC|ACA	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		6.550001	1	7	13	0	1	1	1	NM_032608	2	6.550001	2	0.500000
PKD1L2	114780	ucsc.edu	hg19	16	81209336	81209336	+	Silent	SNP	G	G	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264																										CAGGTTCAGGGCCACAGTGTA	0.542	0	82.0	83.0	83.0	16	81209336	2024	4177	6201			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473		21715	protein-coding gene	gene with protein product		607894			12782129	Standard	NM_052892	Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209336G>T		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	G	9.018	0.984184	0.18889	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.78	-0.0422	0.13864	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	-15.7461	1.76	0.02990	0.277:0.1404:0.4394:0.1433	.	.	.	.	T	347	.	.	P	-	1	0	PKD1L2	79766837	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	0.738000	0.26158	0.127000	0.18452	-0.396000	0.06452	CCC	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1				-21	33						4		33	
SHF	90525	broad.mit.edu	hg19	15	45464122	45464122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr15:45464122G>A	ENST00000560471.1	-	6	1240	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron			B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	0					endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	TCTCACTGTTGCGCACCAGGT	0.582	0	86.0	66.0	73.0	15	45464122	2198	4298	6496	SO:0001587	stop_gained	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606	"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product					11095946	Standard	NM_138356	Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560471.1:c.1237C>T	15.37:g.45464122G>A	ENSP00000453260:p.Gln413*		ENST00000560471.1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.067341	0.76301	.	.	ENSG00000138606	ENST00000361989	.	.	.	4.94	1.49	0.22878	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72043	-0.4409	5	0.87932	D	0	-15.0264	11.1936	0.48700	0.0:0.0:0.3183:0.6817	.	.	.	.	V	348	.	ENSP00000355004:A348V	A	-	2	0	SHF	43251414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.853000	0.27777	0.430000	0.26230	0.655000	0.94253	GCA	SHF-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416345.1		42.948425	0	-12	42	0	0	1	0	NM_138356	14	42.948425	14	0.500000
F5	2153	broad.mit.edu	hg19	1	169519912	169519912	+	Silent	SNP	A	A	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:169519912A>C	ENST00000367796.3	-	9	1563	c.1362T>G	c.(1360-1362)ccT>ccG	p.P454P	F5_ENST00000546081.1_Silent_p.P317P|F5_ENST00000367797.3_Silent_p.P454P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	454	F5/8 type A 2.|Plastocyanin-like 3.	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				CATCTTCATAAGGCGAGAAGG	0.393	0	99.0	97.0	97.0	1	169519912	2203	4300	6503	SO:0001819	synonymous_variant	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734		3542	protein-coding gene	gene with protein product		612309				Standard	NM_000130	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1362T>G	1.37:g.169519912A>C		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	ENST00000367797.3	37	CCDS1281.1																																																																																			F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		-5.725384	0	3	84	0	0	1	0	NM_000130	3	6.606547	55	0.051724
PPP2R1A	5518	broad.mit.edu	hg19	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	ATGGTGCGGCGGGCCGCAGCC	0.617	10	75.0	60.0	65.0	19	52715983	2203	4300	6503	SO:0001583	missense		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""			Standard	NR_033500	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln	Q13773|Q6ICQ3|Q96DH3	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	PPP2R1A	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		44.711454	0	7	61	0	0	1	0	NM_014225	15	45.944544	31	0.326087
LAMA2	3908	broad.mit.edu	hg19	6	129663539	129663539	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr6:129663539T>C	ENST00000421865.2	+	30	4412	c.4363T>C	c.(4363-4365)Tac>Cac	p.Y1455H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1455	Laminin EGF-like 15.	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	TGCTCTTGGATACTATGGAAT	0.373	0	164.0	151.0	156.0	6	129663539	2203	4300	6503	SO:0001583	missense	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM	2185464, 8294519	Standard	NM_000426	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4363T>C	6.37:g.129663539T>C	ENSP00000400365:p.Tyr1455His	Q14736|Q5VUM2|Q93022	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489778	0.84962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.71817	-0.6	5.57	5.57	0.84162	EGF-like, laminin (4);	0.064450	0.64402	D	0.000007	T	0.78698	0.4324	M	0.71581	2.175	0.45464	D	0.998434	D;D	0.71674	0.998;0.993	D;D	0.68483	0.958;0.942	T	0.80681	-0.1274	10	0.54805	T	0.06	.	15.0157	0.71581	0.0:0.0:0.0:1.0	.	1455;1455	A6NF00;P24043	.;LAMA2_HUMAN	H	1455	ENSP00000400365:Y1455H	ENSP00000346769:Y1455H	Y	+	1	0	LAMA2	129705232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.248000	0.74166	0.533000	0.62120	TAC	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		61.718279	0	10	109	0	0	1	0		22	65.046403	56	0.282051
SRSF2	6427	broad.mit.edu	hg19	17	74732943	74732969	+	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_472	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	c.(274-300)tacggccgccccccggactcacaccacdel	p.YGRPPDSHH92del	MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329					CCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.736	189									SO:0001651	inframe_deletion	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2	8530103, 20516191	Standard	NM_003016	Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	17.37:g.74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His100del	B3KWD5|B4DN89|H0YG49	ENST00000392485.2	37	CCDS11749.1																																																																																			SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.		-3	31					NM_003016	7		28	0.20
MAPKAPK5	8550	broad.mit.edu	hg19	12	112330858	112330858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr12:112330858delC	ENST00000550735.2	+	14	2165	c.1409delC	c.(1408-1410)tccfs	p.S470fs	MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.S472fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	472		signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	endometrium(1)|lung(11)|ovary(1)	13					TCCCACGAATCCCAATAATGA	0.303	0	71.0	69.0	70.0	12	112330858	1853	4096	5949	SO:0001589	frameshift_variant	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022		6889	protein-coding gene	gene with protein product		606723			9628874	Standard	NM_003668	Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1415delC	12.37:g.112330858delC	ENSP00000449381:p.Ser472fs	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	ENST00000551404.2	37	CCDS44975.1																																																																																			MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	.	.		-4	4					NM_139078	2		4	0.33