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
RGS11	8786	broad.mit.edu	hg19	16	321227	321227	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:321227G>A	ENST00000397770.3	-	12	854	c.837C>T	c.(835-837)gaC>gaT	p.D279D	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	279	G protein gamma.	G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)			CCCAGTAGGCGTCATTGTCTG	0.672	1	30.0	36.0	34.0	16	321227	2202	4298	6500	SO:0001819	synonymous_variant	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344	"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""		9789084	Standard	NM_001286486	Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.837C>T	16.37:g.321227G>A		O75883|Q4TT71|Q4TT72	ENST00000397770.3	37	CCDS42088.1																																																																																			RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2		24.112139	0	-5	23	0	0	1	0		8	24.281734	12	0.400000
PRRG4	79056	broad.mit.edu	hg19	11	32858271	32858271	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr11:32858271G>A	ENST00000257836.3	+	3	424	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	57	Gla.		extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)				GATTTGATCTGGAGCTCTTCA	0.348	0	59.0	61.0	61.0	11	32858271	2202	4299	6501	SO:0001819	synonymous_variant	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378		30799	protein-coding gene	gene with protein product		611690			11171957	Standard	NM_024081	Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.171G>A	11.37:g.32858271G>A			ENST00000257836.3	37	CCDS7881.1																																																																																			PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1		43.008727	0	4	58	0	0	1	0	NM_024081	15	44.243236	31	0.326087
TNS4	84951	broad.mit.edu	hg19	17	38645057	38645057	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:38645057T>C	ENST00000254051.6	-	3	762	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	202	Ser-rich.	apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)		CCAGAGAAGATGAGGCTCTCA	0.652	0	37.0	46.0	43.0	17	38645057	2195	4289	6484	SO:0001583	missense	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746	"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385			12154022, 12711115	Standard	NM_032865	Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.604A>G	17.37:g.38645057T>C	ENSP00000254051:p.Ile202Val	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501552	0.64298	0.0	1.17E-4	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19669	2.13	5.77	5.77	0.91146	.	0.448288	0.16590	N	0.207787	T	0.20780	0.0500	L	0.34521	1.04	0.24227	N	0.995418	D	0.55605	0.972	P	0.49085	0.6	T	0.11542	-1.0583	10	0.20519	T	0.43	-30.3227	9.592	0.39552	0.0:0.0793:0.0:0.9207	.	202	Q8IZW8	TENS4_HUMAN	V	202	ENSP00000254051:I202V	ENSP00000254051:I202V	I	-	1	0	TNS4	35898583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.385000	0.44371	2.203000	0.70933	0.460000	0.39030	ATC	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3		66.800435	0	-15	80	0	0	1	0	NM_032865	23	69.020443	50	0.315068
ANXA2	302	broad.mit.edu	hg19	15	60648185	60648185	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:60648185T>A	ENST00000396024.3	-	8	620	c.461A>T	c.(460-462)gAt>gTt	p.D154V	ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	154		angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					CTTCTCCAGATCAGTCTTGTA	0.473	0	151.0	131.0	137.0	15	60648185	2203	4300	6503	SO:0001583	missense	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718	"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D	7961821	Standard	NM_001136015	Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.461A>T	15.37:g.60648185T>A	ENSP00000379342:p.Asp154Val	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	ENST00000396024.3	37	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898927	0.72754	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	Annexin repeat, conserved site (1);	0.059193	0.64402	U	0.000004	T	0.25494	0.0620	H	0.96015	3.755	0.80722	D	1	B;P	0.36683	0.442;0.565	B;P	0.47346	0.188;0.544	T	0.07770	-1.0755	10	0.72032	D	0.01	.	15.0972	0.72244	0.0:0.0:0.0:1.0	.	172;154	P07355-2;P07355	.;ANXA2_HUMAN	V	154;172;154;154;37	ENSP00000379342:D154V;ENSP00000346032:D172V;ENSP00000411352:D154V;ENSP00000387545:D154V	ENSP00000346032:D172V	D	-	2	0	ANXA2	58435477	1.000000	0.71417	0.728000	0.30774	0.633000	0.38033	6.898000	0.75676	2.200000	0.70718	0.460000	0.39030	GAT	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1		50.798713	0	-2	49	0	0	1	0	NM_001002857	16	50.805303	17	0.484848
VWA8	23078	broad.mit.edu	hg19	13	42461419	42461419	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr13:42461419G>A	ENST00000379310.3	-	6	798	c.730C>T	c.(730-732)Cca>Tca	p.P244S	VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8												CTTGGCACTGGCAAGCCCAAG	0.413	0	69.0	73.0	72.0	13	42461419	2203	4300	6503	SO:0001583	missense	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763		29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564	9628581	Standard	NM_015058	Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.730C>T	13.37:g.42461419G>A	ENSP00000368612:p.Pro244Ser	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857441	0.91433	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	10	0.87932	D	0	.	18.9359	0.92584	0.0:0.0:1.0:0.0	.	244	A3KMH1	K0564_HUMAN	S	148;244;244;244	ENSP00000368612:P244S;ENSP00000281496:P244S	ENSP00000251030:P148S	P	-	1	0	KIAA0564	41359419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.740000	0.98839	2.538000	0.85594	0.650000	0.86243	CCA	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		-5.119755	0	-6	63	0	0	1	0	NM_015058	3	6.378299	52	0.054545
UNC5B	219699	broad.mit.edu	hg19	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429		apoptosis|axon guidance|regulation of apoptosis	integral to membrane		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49					CTTTAAGACGGCAAGGCCCAG	0.597	2	165.0	158.0	160.0	10	73050857	2203	4300	6503	SO:0001583	missense	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""			Standard	NM_170744	Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	UNC5B	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1		-37.461449	0	-9	228	0	0	1	0	NM_170744	4	6.938716	171	0.022857
MAN2A1	4124	broad.mit.edu	hg19	5	109106204	109106204	+	Silent	SNP	C	C	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:109106204C>G	ENST00000261483.4	+	7	2210	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	386		mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	CCTGGGGAGTCCCCCCAGAAA	0.433	0	86.0	84.0	85.0	5	109106204	2202	4300	6502	SO:0001819	synonymous_variant		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2	1757461, 15004235	Standard	NM_002372	Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1158C>G	5.37:g.109106204C>G		Q16767	ENST00000261483.4	37	CCDS34209.1																																																																																			MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		-9.630693	0	13	75	0	0	1	0		3	6.337902	68	0.042254
PRR14	78994	broad.mit.edu	hg19	16	30666177	30666177	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:30666177G>A	ENST00000542965.2	+	7	1342	c.886G>A	c.(886-888)Gct>Act	p.A296T	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T			Q9BWN1	PRR14_HUMAN	proline rich 14	296	Pro-rich.				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)		GCAGTCTGGGGCTGCTGAGGG	0.637	0	40.0	43.0	42.0	16	30666177	2197	4299	6496	SO:0001583	missense	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858		28458	protein-coding gene	gene with protein product					12477932	Standard	NM_024031	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.886G>A	16.37:g.30666177G>A	ENSP00000441641:p.Ala296Thr	Q8WTX2	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675314	0.47781	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.46063	0.88;0.88	5.45	4.48	0.54585	.	2.915910	0.01328	N	0.011165	T	0.52500	0.1738	L	0.57536	1.79	0.18873	N	0.999986	P	0.44816	0.844	P	0.46076	0.503	T	0.49000	-0.8984	10	0.52906	T	0.07	-5.3799	12.3215	0.54987	0.0852:0.0:0.9148:0.0	.	296	Q9BWN1	PRR14_HUMAN	T	269;296;296	ENSP00000300835:A296T;ENSP00000441641:A296T	ENSP00000287463:A269T	A	+	1	0	PRR14	30573678	0.784000	0.28713	0.358000	0.25811	0.997000	0.91878	1.092000	0.30927	2.716000	0.92895	0.643000	0.83706	GCT	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1		44.923342	0	-10	35	0	0	1	0	NM_024031	15	45.140218	21	0.416667
NBPF3	84224	broad.mit.edu	hg19	1	21798124	21798124	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:21798124A>G	ENST00000318220.6	+	8	1389	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	NBPF3_ENST00000318249.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	170			cytoplasm		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	GAGAAGTTACAGGAAGGGAGA	0.517	0	119.0	130.0	126.0	1	21798124	2203	4298	6501	SO:0001583	missense	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794	"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992			11230166, 16079250	Standard	NM_032264	Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318220.6:c.341A>G	1.37:g.21798124A>G	ENSP00000316739:p.Gln114Arg	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	ENST00000318220.6	37		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.352898	0.00217	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.43688	0.94;4.79;4.76;4.71;4.79	1.23	-1.78	0.07957	.	.	.	.	.	T	0.10723	0.0262	N	0.00960	-1.095	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24261	-1.0165	9	0.02654	T	1	.	5.6506	0.17614	0.6152:0.0:0.3848:0.0	.	100;170;170	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	100;114;170;114;170;114	ENSP00000415711:Q100R;ENSP00000316739:Q114R;ENSP00000316782:Q170R;ENSP00000340336:Q170R;ENSP00000391865:Q114R	ENSP00000316739:Q114R	Q	+	2	0	NBPF3	21670711	0.082000	0.21442	0.000000	0.03702	0.005000	0.04900	-1.244000	0.02902	-1.121000	0.02949	-1.559000	0.00887	CAG	NBPF3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000008190.2		-30.905533	0	-95	176	0	0	1	0	NM_032264	6	10.712685	170	0.034091
MYH4	4622	broad.mit.edu	hg19	17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:10355524C>T	ENST00000255381.2	-	27	3582	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1158		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149					GTGGCCCCACCGGCTTCTTCC	0.612	0	82.0	91.0	88.0	17	10355524	2203	4300	6503	SO:0001583	missense		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""		8518795	Standard	NM_017533	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3472G>A	17.37:g.10355524C>T	ENSP00000255381:p.Gly1158Ser		ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771001	0.69992	.	.	ENSG00000141048	ENST00000255381	D	0.82167	-1.58	5.4	4.43	0.53597	Myosin tail (1);	0.000000	0.37955	U	0.001862	D	0.87281	0.6138	M	0.74647	2.275	0.58432	D	0.999997	P	0.50443	0.935	P	0.52481	0.7	D	0.88485	0.3071	10	0.59425	D	0.04	.	14.4601	0.67442	0.0:0.9286:0.0:0.0714	.	1158	Q9Y623	MYH4_HUMAN	S	1158	ENSP00000255381:G1158S	ENSP00000255381:G1158S	G	-	1	0	MYH4	10296249	1.000000	0.71417	0.278000	0.24718	0.760000	0.43138	6.017000	0.70805	1.417000	0.47077	0.655000	0.94253	GGT	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		152.486460	0	-16	138	0	0	1	0	NM_017533	51	155.184547	93	0.354167
AHCTF1	25909	broad.mit.edu	hg19	1	247006072	247006072	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:247006072C>T	ENST00000366508.1	-	35	6773	c.6637G>A	c.(6637-6639)Gat>Aat	p.D2213N	AHCTF1_ENST00000391829.2_Missense_Mutation_p.D2178N|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2178	Necessary for nuclear localization (By similarity).	cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		GATTGTGCATCATCTTTCTAT	0.358	0	210.0	193.0	198.0	1	247006072	2203	4300	6503	SO:0001583	missense		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207		24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853			11952839	Standard	NM_015446	Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000366508.1:c.6637G>A	1.37:g.247006072C>T	ENSP00000355464:p.Asp2213Asn	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	ENST00000366508.1	37		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705405	0.30232	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38560	1.13;1.14;1.14	5.06	3.16	0.36331	.	0.275715	0.31233	N	0.008009	T	0.34424	0.0897	L	0.52364	1.645	0.35087	D	0.763997	B;B	0.20887	0.047;0.049	B;B	0.18263	0.021;0.018	T	0.35500	-0.9786	10	0.31617	T	0.26	-11.8773	9.7454	0.40444	0.0:0.8362:0.0:0.1638	.	2213;2178	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	N	2213;2187;2178	ENSP00000355464:D2213N;ENSP00000355465:D2187N;ENSP00000375705:D2178N	ENSP00000355465:D2187N	D	-	1	0	AHCTF1	245072695	0.697000	0.27767	0.975000	0.42487	0.300000	0.27592	0.040000	0.13905	0.624000	0.30286	0.591000	0.81541	GAT	AHCTF1-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000097817.1		63.839374	0	-42	115	0	0	1	0	NM_015446	22	65.334675	43	0.338462
CHST4	10164	broad.mit.edu	hg19	16	71571118	71571118	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:71571118C>T	ENST00000338482.5	+	3	881	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	180		cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21					CAAGGAGGTGCGCTTCTTCAA	0.637	1	87.0	87.0	87.0	16	71571118	2198	4300	6498	SO:0001583	missense	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835	"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product					10330415	Standard	NM_001166395	Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.538C>T	16.37:g.71571118C>T	ENSP00000341206:p.Arg180Cys	Q8IV46|Q9Y5R3	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410209	0.83340	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84730	-1.89;-1.89	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95673	0.8725	10	0.87932	D	0	-3.2798	17.5569	0.87894	0.0:1.0:0.0:0.0	.	180	Q8NCG5	CHST4_HUMAN	C	180	ENSP00000341206:R180C;ENSP00000441204:R180C	ENSP00000341206:R180C	R	+	1	0	CHST4	70128619	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.915000	0.56409	2.735000	0.93741	0.655000	0.94253	CGC	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		16.385456	0	2	57	0	0	1	0	NM_005769	7	17.496374	18	0.280000
ABHD2	11057	broad.mit.edu	hg19	15	89694924	89694924	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:89694924A>G	ENST00000352732.5	+	4	731	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	71			integral to membrane	carboxylesterase activity	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)				TCCACCGTTGATCTGGGGGAA	0.453	0	135.0	123.0	127.0	15	89694924	2200	4299	6499	SO:0001583	missense	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526	"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196				Standard	NM_152924	Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.211A>G	15.37:g.89694924A>G	ENSP00000268129:p.Ile71Val	Q53G48|Q53GU0|Q5FVD9|Q8TC79	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870785	0.51695	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	.	0.059876	0.64402	D	0.000002	T	0.12008	0.0292	L	0.29908	0.895	0.47778	D	0.999519	B	0.18310	0.027	B	0.19946	0.027	T	0.16158	-1.0412	10	0.15066	T	0.55	-0.1146	16.5655	0.84588	1.0:0.0:0.0:0.0	.	71	P08910	ABHD2_HUMAN	V	71	ENSP00000268129:I71V;ENSP00000347217:I71V	ENSP00000268129:I71V	I	+	1	0	ABHD2	87495928	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.166000	0.58203	2.302000	0.77476	0.533000	0.62120	ATC	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		107.771224	0	-66	89	0	0	1	0		36	109.943305	68	0.346154
SNTG2	54221	broad.mit.edu	hg19	2	1263147	1263147	+	Silent	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr2:1263147C>T	ENST00000308624.5	+	13	1140	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	SNTG2_ENST00000407292.1_Silent_p.S210S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	337	PH.	central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	TGCAGGTGAGCACATTCGATT	0.403	0	116.0	109.0	111.0	2	1263147	1880	4128	6008	SO:0001819	synonymous_variant	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554		13741	protein-coding gene	gene with protein product		608715			10747910	Standard	NM_018968	Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1011C>T	2.37:g.1263147C>T		Q05AH5	ENST00000308624.5	37	CCDS46220.1																																																																																			SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		17.774874	0	-4	49	0	0	1	0	NM_018968	8	21.329515	33	0.195122
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	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		38.800578	0	-10	71	0	0	1	0	NM_002067	15	41.691458	42	0.263158
UBA1	7317	broad.mit.edu	hg19	X	47060312	47060312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chrX:47060312delC	ENST00000335972.6	+	6	683	c.500delC	c.(499-501)accfs	p.T167fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	167	2 approximate repeats.	cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31					CTCACCAACACCCCCCTGGAG	0.622	0	58.0	44.0	49.0	X	47060312	2201	4295	6496	SO:0001589	frameshift_variant	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1	1845793	Standard	NM_153280	Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.500delC	X.37:g.47060312delC	ENSP00000338413:p.Thr167fs	Q5JRR8|Q96E13	ENST00000335972.6	37	CCDS14275.1																																																																																			UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	.	.		0	10					NM_003334	2		4	0.33
PURA	5813	broad.mit.edu	hg19	5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)ggcdel	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.	DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		cggcggcagtggcggcggcggcg	0.778	1									SO:0001651	inframe_deletion	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129		9701	protein-coding gene	gene with protein product		600473			1448097	Standard	NM_005859	Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.130_132delGGC	5.37:g.139493905_139493907delGGC	ENSP00000332706:p.Gly49del		ENST00000331327.3	37	CCDS4220.1																																																																																			PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	.	.		3	9					NM_005859	4		3	0.57
ARL6IP4	51329	broad.mit.edu	hg19	12	123466190	123466190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr12:123466190delC	ENST00000315580.5	+	3	930	c.602delC	c.(601-603)tccfs	p.S221fs	ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	221	Ser-rich.	RNA splicing	nucleus				all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	AGctcctcctcctcttcttcc	0.562	0	21.0	21.0	21.0	12	123466190	2197	4290	6487	SO:0001589	frameshift_variant	AB035384	CCDS31923.1, CCDS41856.1, CCDS45004.1, CCDS53843.1, CCDS61273.1, CCDS31923.2, CCDS41856.2, CCDS45004.2, CCDS53843.2	12q24.31	2014-05-12	2014-05-12		ENSG00000182196	ENSG00000182196		18076	protein-coding gene	gene with protein product	"""SRp25 nuclear protein"", ""splicing factor, arginine/serine-rich 20"""	607668	"""ADP-ribosylation-like factor 6 interacting protein 4"""		10708573, 11884129	Standard	NM_018694	Approved	SR-25, SRp25, SFRS20, SRrp37	uc001ued.3	Q66PJ3	OTTHUMG00000168779	ENST00000439686.2:c.209delC	12.37:g.123466190delC	ENSP00000396365:p.Ser90fs	A4UCR8|B3V0L0|B3V0L1|Q4F966|Q504R8|Q96BI2|Q9NR05|Q9P2R9	ENST00000439686.2	37																																																																																				ARL6IP4-019	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000401045.1	.	.		-3	7					NM_018694	2		4	0.33