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
MAP3K19	80122	broad.mit.edu	hg19	2	135738473	135738473	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:135738473C>T	ENST00000375845.3	-	9	3868	c.3838G>A	c.(3838-3840)Gga>Aga	p.G1280R	MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19												CGGTGTGCTCCGATGTAAAAC	0.502	0	64.0	56.0	59.0	2	135738473	2203	4300	6503	SO:0001583	missense	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4	12477932	Standard	NM_001282883	Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3838G>A	2.37:g.135738473C>T	ENSP00000365005:p.Gly1280Arg	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824205	0.90955	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000523	T	0.69214	0.3086	N	0.20304	0.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.998;1.0	T	0.73748	-0.3885	10	0.87932	D	0	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	412;1167;414;462;1280	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1280;1167;462;414;412;670;141	ENSP00000365005:G1280R;ENSP00000351140:G1167R;ENSP00000365004:G462R;ENSP00000376650:G414R;ENSP00000376649:G412R;ENSP00000392827:G670R;ENSP00000321160:G141R	ENSP00000321160:G141R	G	-	1	0	YSK4	135454943	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.616000	0.83018	2.629000	0.89072	0.591000	0.81541	GGA	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		10.729494	0	1	36	0	0	1	0	NM_025052	6	15.422610	34	0.150000
MACF1	23499	broad.mit.edu	hg19	1	39796950	39796950	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:39796950G>C	ENST00000564288.1	+	37	5467	c.4690G>C	c.(4690-4692)Ggc>Cgc	p.G1564R	MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G1569R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1569		cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CATGCAAAAGGGCCTCCTTGA	0.453	0	60.0	56.0	57.0	1	39796950	2203	4300	6503	SO:0001583	missense	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271			7635207, 10529403	Standard	NM_012090	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4705G>C	1.37:g.39796950G>C	ENSP00000362006:p.Gly1569Arg	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	17.67	3.447103	0.63178	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74421	-0.84;-0.84	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000030	D	0.86707	0.5997	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86701	0.1929	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1569	Q9UPN3	MACF1_HUMAN	R	1569;4	ENSP00000362006:G1569R;ENSP00000289893:G4R	ENSP00000289893:G4R	G	+	1	0	MACF1	39569537	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.750000	0.98875	2.831000	0.97527	0.650000	0.86243	GGC	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		10.855415	0	14	50	0	0	1	0	NM_033044	5	14.238404	26	0.161290
NWD1	284434	broad.mit.edu	hg19	19	16861023	16861023	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:16861023T>A	ENST00000524140.2	+	6	1988	c.1570T>A	c.(1570-1572)Tgg>Agg	p.W524R	NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R|NWD1_ENST00000552788.1_Missense_Mutation_p.W524R|NWD1_ENST00000523826.1_Missense_Mutation_p.W318R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	524	NACHT.			ATP binding	NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67					AGATTTGCTCTGGGCCAGCCT	0.637	0	33.0	34.0	33.0	19	16861023	2202	4298	6500	SO:0001583	missense	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039	"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product						Standard	NM_001007525	Approved		uc002neu.4	Q149M9		ENST00000524140.2:c.1570T>A	19.37:g.16861023T>A	ENSP00000428579:p.Trp524Arg	C9J021|Q68CT3	ENST00000524140.2	37	CCDS32945.2	.	.	.	.	.	.	.	.	.	.	t	15.34	2.805787	0.50421	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55052	0.54;0.6;0.54;0.55;0.6;0.6	5.04	4.02	0.46733	.	0.242048	0.35207	N	0.003377	T	0.59059	0.2166	L	0.36672	1.1	0.31585	N	0.654591	B;P;D	0.76494	0.251;0.552;0.999	B;B;D	0.85130	0.038;0.157;0.997	T	0.62714	-0.6796	10	0.48119	T	0.1	-19.6071	8.555	0.33476	0.0:0.0933:0.0:0.9067	.	524;524;389	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	389;524;524;524;318;524;389	ENSP00000428579:W524R;ENSP00000447548:W524R;ENSP00000369136:W524R;ENSP00000428955:W318R;ENSP00000447224:W524R;ENSP00000340159:W389R	ENSP00000340159:W389R	W	+	1	0	NWD1	16722023	0.984000	0.35163	0.935000	0.37517	0.659000	0.38960	1.401000	0.34589	0.780000	0.33566	0.448000	0.29417	TGG	NWD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379040.3		-1.610438	0	-9	38	0	0	1	0	NM_001007525	3	6.608614	40	0.069767
DTNA	1837	broad.mit.edu	hg19	18	32459684	32459684	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr18:32459684G>A	ENST00000283365.9	+	19	2261		c.e19+1		DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000399113.3_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000444659.1_Splice_Site	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha			neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29					GTGGCGACATGTGAGTATCTT	0.423	0	58.0	54.0	55.0	18	32459684	2203	4300	6503	SO:0001630	splice_region_variant	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769		3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239			8081380, 15834686	Standard	NM_001390	Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2081+1G>A	18.37:g.32459684G>A		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701312	0.30142	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0969	0.86637	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DTNA	30713682	1.000000	0.71417	0.953000	0.39169	0.068000	0.16541	7.003000	0.76310	2.545000	0.85829	0.655000	0.94253	.	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		20.650755	0	6	41	0	0	1	0	NM_001390	9	23.817959	33	0.214286
CTC-457E21.6	0	broad.mit.edu	hg19	19	22785642	22785642	+	RNA	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:22785642G>A	ENST00000600260.1	+	0	1649					NR_033899.1																GAGCAGCACCGAGAGGAGGAG	0.672	0																																				19.37:g.22785642G>A			ENST00000599738.1	37																																																																																				CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1		10.996514	0	6	19	0	0	1	0		4	11.176661	7	0.363636
BPIFB1	92747	broad.mit.edu	hg19	20	31890861	31890861	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:31890861C>T	ENST00000253354.1	+	11	1282	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	374			extracellular space	lipid binding							GCCCTCCGCCCTTTGTTCACC	0.532	0	109.0	90.0	96.0	20	31890861	2203	4300	6503	SO:0001583	missense	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999	"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114	11971875, 21787333	Standard	NM_033197	Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1121C>T	20.37:g.31890861C>T	ENSP00000253354:p.Pro374Leu	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	ENST00000253354.1	37	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854591	0.71719	.	.	ENSG00000125999	ENST00000253354	T	0.09163	3.01	5.27	5.27	0.74061	.	0.091223	0.48767	D	0.000161	T	0.32194	0.0821	M	0.72894	2.215	0.43703	D	0.996166	D	0.89917	1.0	D	0.97110	1.0	T	0.01114	-1.1447	10	0.87932	D	0	-35.3612	14.2532	0.66033	0.0:1.0:0.0:0.0	.	374	Q8TDL5	BPIB1_HUMAN	L	374	ENSP00000253354:P374L	ENSP00000253354:P374L	P	+	2	0	BPIFB1	31354522	0.437000	0.25593	0.852000	0.33557	0.121000	0.20230	3.320000	0.51991	2.742000	0.94016	0.455000	0.32223	CCT	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2		-7.463367	0	-13	88	0	0	1	0	NM_033197	4	8.883091	73	0.051948
RPS6KA6	27330	broad.mit.edu	hg19	X	83374915	83374915	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:83374915C>G	ENST00000262752.2	-	9	774	c.767G>C	c.(766-768)tGg>tCg	p.W256S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	256	Protein kinase 1.	axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46					ATATGACCACCAATCAGCACT	0.338	0	82.0	72.0	75.0	X	83374915	2203	4299	6502	SO:0001583	missense	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133		10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""		10644430	Standard	NM_014496	Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.767G>C	X.37:g.83374915C>G	ENSP00000262752:p.Trp256Ser	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021606	0.75275	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.24723	1.84;1.84	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.63875	-0.6538	10	0.87932	D	0	.	18.2405	0.89966	0.0:1.0:0.0:0.0	.	256;256	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	256	ENSP00000262752:W256S;ENSP00000440830:W256S	ENSP00000262752:W256S	W	-	2	0	RPS6KA6	83261571	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.642000	0.83385	2.245000	0.73994	0.600000	0.82982	TGG	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		73.291220	0	-64	82	0	0	1	0	NM_014496	24	73.540395	32	0.428571
ZNF197	10168	broad.mit.edu	hg19	3	44670659	44670659	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr3:44670659A>G	ENST00000396058.1	+	1	180	c.13A>G	c.(13-15)Aat>Gat	p.N5D	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D			O14709	ZN197_HUMAN	zinc finger protein 197	5		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	GACAAGAGAAAATGTAGCCCA	0.458	0	111.0	120.0	117.0	3	44670659	2203	4300	6503	SO:0001583	missense	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448	"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166	9380504, 8353497	Standard	XM_005264783	Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.13A>G	3.37:g.44670659A>G	ENSP00000379370:p.Asn5Asp	B2RAH8|Q86VG0	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819714	0.71028	.	.	ENSG00000186448	ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T;T	0.10763	2.84;5.66;3.37;5.66;3.37	4.23	4.23	0.50019	.	0.836377	0.09995	N	0.729217	T	0.14485	0.0350	N	0.08118	0	0.22389	N	0.999141	P;D	0.58268	0.877;0.982	B;D	0.67548	0.339;0.952	T	0.36114	-0.9761	10	0.48119	T	0.1	.	9.8955	0.41316	1.0:0.0:0.0:0.0	.	5;5	Q86VG0;O14709	.;ZN197_HUMAN	D	5	ENSP00000394713:N5D;ENSP00000373250:N5D;ENSP00000345809:N5D;ENSP00000373251:N5D;ENSP00000379370:N5D	ENSP00000334616:N5D	N	+	1	0	ZNF197	44645663	0.912000	0.30974	0.909000	0.35828	0.955000	0.61496	2.213000	0.42844	1.914000	0.55421	0.459000	0.35465	AAT	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		46.075024	0	0	105	0	0	1	0	NM_006991	16	48.859775	43	0.271186
ITPR2	3709	broad.mit.edu	hg19	12	26943118	26943118	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr12:26943118G>A	ENST00000381340.3	-	2	551	c.135C>T	c.(133-135)gaC>gaT	p.D45D	ITPR2_ENST00000242737.5_Silent_p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	45		activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				GGTTGGCAAGGTCCCCGGCCT	0.393	0	96.0	94.0	95.0	12	26943118	1899	4140	6039	SO:0001819	synonymous_variant	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""		8081734	Standard	XM_006719064	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.135C>T	12.37:g.26943118G>A		O94773	ENST00000381340.3	37	CCDS41764.1																																																																																			ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		35.989786	0	13	95	0	0	1	0	NM_002223	15	40.876496	53	0.220588
GDAP1L1	78997	broad.mit.edu	hg19	20	42907913	42907913	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:42907913C>T	ENST00000342560.5	+	6	1165	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	359					endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		ACTTTGCCTACTGGTACCTCA	0.562	0	93.0	87.0	89.0	20	42907913	2203	4300	6503	SO:0001819	synonymous_variant		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194		4213	protein-coding gene	gene with protein product						Standard	NM_024034	Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1077C>T	20.37:g.42907913C>T		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	ENST00000342560.5	37	CCDS13328.1																																																																																			GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		32.744912	0	29	123	0	0	1	0	NM_024034	16	41.977211	76	0.173913
WDR25	79446	broad.mit.edu	hg19	14	100996252	100996252	+	Silent	SNP	C	C	T	rs148470180	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:100996252C>T	ENST00000335290.6	+	7	1735	c.1509C>T	c.(1507-1509)cgC>cgT	p.R503R	WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R|WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	503					central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)			ACAGCTTCCGCACAGCCAGCC	0.677	0	77.0	74.0	75.0	14	100996252	2203	4300	6503	SO:0001819	synonymous_variant	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473	"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67	15587985	Standard	NM_001161476	Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1509C>T	14.37:g.100996252C>T		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	ENST00000335290.6	37	CCDS32157.1																																																																																			WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		28.535980	0	12	91	0	0	1	0	NM_024515	13	33.978589	52	0.200000
VGLL2	245806	broad.mit.edu	hg19	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	75		transcription, DNA-dependent	nucleus		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	AAGAGCGCCCACCAGAGGCAG	0.577	0	103.0	118.0	113.0	6	117589488	2203	4300	6503	SO:0001819	synonymous_variant	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162		20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""		12376544	Standard	NM_153453	Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.225A>C	6.37:g.117589488A>C		Q8WWX1	ENST00000326274.5	37	CCDS5115.1																																																																																			VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2		-12.215597	0	-10	160	0	0	1	0	NM_153453	8	7.970383	99	0.074766
CACNA1A	773	broad.mit.edu	hg19	19	13322958	13322958	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:13322958C>G	ENST00000360228.5	-	43	6261	c.6262G>C	c.(6262-6264)Ggc>Cgc	p.G2088R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2089		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		GCAGCCCGGCCCTGGCCTTCC	0.647	0	35.0	37.0	36.0	19	13322958	2052	4194	6246	SO:0001583	missense	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	8825650, 16382099, 23827678	Standard	NM_000068	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6262G>C	19.37:g.13322958C>G	ENSP00000353362:p.Gly2088Arg	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673063	0.47781	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.77750	-1.12	4.45	2.3	0.28687	.	0.628034	0.12091	U	0.500407	T	0.82231	0.4992	M	0.78456	2.415	0.35816	D	0.82425	B;P;B;B	0.35527	0.065;0.507;0.151;0.373	B;P;B;B	0.46629	0.075;0.522;0.212;0.221	T	0.82442	-0.0455	10	0.87932	D	0	.	8.7467	0.34591	0.0:0.8061:0.0:0.1939	.	2089;2094;2088;2089	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	R	2088;2094;2089;2089	ENSP00000353362:G2088R	ENSP00000317661:G2089R	G	-	1	0	CACNA1A	13183958	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.600000	0.54052	0.325000	0.23359	-0.350000	0.07774	GGC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		-3.415979	0	-8	42	0	0	1	0	NM_000068	3	6.705430	47	0.060000
RAB11FIP5	26056	broad.mit.edu	hg19	2	73316089	73316089	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:73316089G>A	ENST00000258098.6	-	2	1026	c.786C>T	c.(784-786)agC>agT	p.S262S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	262		protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23					CCAAGCTCCCGCTGGCTGAGG	0.647	0	50.0	49.0	49.0	2	73316089	2203	4300	6503	SO:0001819	synonymous_variant	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631		24845	protein-coding gene	gene with protein product		605536			10048485, 11163216	Standard	NM_015470	Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.786C>T	2.37:g.73316089G>A		O94939|Q9P0M1	ENST00000258098.6	37	CCDS1923.1																																																																																			RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		14.768037	0	5	54	0	0	1	0	NM_015470	8	20.497255	43	0.156863
AKAP9	10142	broad.mit.edu	hg19	7	91659258	91659258	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr7:91659258A>G	ENST00000359028.2	+	16	4459	c.4234A>G	c.(4234-4236)Atg>Gtg	p.M1412V	AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1412		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ACAGAGAACAATGTACCCTGG	0.284	0	117.0	125.0	122.0	7	91659258	2203	4299	6502	SO:0001583	missense	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001			9482789, 10390370, 24475373	Standard	NM_147185	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.4198A>G	7.37:g.91659258A>G	ENSP00000348573:p.Met1400Val	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	ENST00000356239.3	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	A	0.526	-0.859961	0.02610	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02631	4.22;4.22;4.22	4.2	-7.84	0.01196	.	1.213510	0.06130	N	0.670473	T	0.00906	0.0030	N	0.00483	-1.445	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.50083	-0.8869	10	0.02654	T	1	.	16.1099	0.81255	0.2421:0.0:0.7579:0.0	.	1412;1400;1400;1412	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	V	1400;1412;1412;1412;1412	ENSP00000348573:M1400V;ENSP00000351922:M1412V;ENSP00000350813:M1412V	ENSP00000348573:M1400V	M	+	1	0	AKAP9	91497194	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-1.790000	0.01759	-1.748000	0.01332	-0.361000	0.07541	ATG	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253808.2		32.736614	0	-4	105	0	0	1	0	NM_005751	13	38.587643	54	0.194030
CLCN5	1184	broad.mit.edu	hg19	X	49845342	49845342	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:49845342C>T	ENST00000376088.3	+	8	1336	c.695C>T	c.(694-696)gCg>gTg	p.A232V	CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000307367.2_Missense_Mutation_p.A162V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162		excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)				AAGGTGTTTGCGCCTTATGCC	0.413	0	193.0	146.0	162.0	X	49845342	2203	4300	6503	SO:0001583	missense	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365	"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1	7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102	Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.485C>T	X.37:g.49845342C>T	ENSP00000304257:p.Ala162Val	A1L475|B3KPN6|Q5JQD5|Q7RTN8	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356618	0.95854	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.45	5.45	0.79879	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.983;0.991	D	0.98166	1.0449	10	0.49607	T	0.09	.	16.9775	0.86317	0.0:1.0:0.0:0.0	.	162;232	P51795;P51795-2	CLCN5_HUMAN;.	V	232;64;232;162;162	ENSP00000365256:A232V;ENSP00000365259:A232V;ENSP00000365276:A162V;ENSP00000304257:A162V	ENSP00000304257:A162V	A	+	2	0	CLCN5	49732082	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.692000	0.84203	2.270000	0.75569	0.594000	0.82650	GCG	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		-5.222240	0	-53	61	0	0	1	0		3	6.829518	54	0.052632
MCHR2	84539	broad.mit.edu	hg19	6	100369077	100369077	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:100369077C>T	ENST00000281806.2	-	6	1076	c.762G>A	c.(760-762)ctG>ctA	p.L254L	MCHR2_ENST00000369212.2_Silent_p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	254			integral to membrane|plasma membrane	G-protein coupled receptor activity	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)	CCACCAGCACCAGCACCATCT	0.458	0	207.0	192.0	197.0	6	100369077	2203	4300	6503	SO:0001819	synonymous_variant	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034	"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145	11355873, 11274220	Standard	NM_032503	Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.762G>A	6.37:g.100369077C>T		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	ENST00000281806.2	37	CCDS5044.1																																																																																			MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2		25.124616	0	2	114	0	0	1	0	NM_032503	13	33.122914	64	0.168831
TEP1	7011	ucsc.edu	hg19	14	20837006	20837006	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e																										GTCCTTCGAAGCTGTCACCAG	0.542	0	109.0	83.0	92.0	14	20837006	2203	4300	6503	SO:0001583	missense		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686			9403057	Standard	NM_007110	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.7388C>A	14.37:g.20837006G>T	ENSP00000452574:p.Ala2463Asp	A0AUV9	ENST00000556935.1	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.422869	0.83559	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.65364	-0.15;-0.15	5.71	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.72894	2.215	0.80722	D	1	D;D	0.63046	0.989;0.992	P;D	0.65443	0.892;0.935	T	0.79347	-0.1841	10	0.87932	D	0	-5.4705	13.7739	0.63041	0.0:0.1542:0.8458:0.0	.	2463;2571	G3V5X7;Q99973	.;TEP1_HUMAN	D	2571;2563;2463	ENSP00000262715:A2571D;ENSP00000452574:A2463D	ENSP00000262715:A2571D	A	-	2	0	TEP1	19906846	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.363000	0.52321	1.381000	0.46364	0.591000	0.81541	GCT	TEP1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000410689.1				1	39					NM_007110	4		21	
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		43.167001	0	-28	84	0	0	1	0	NM_002072	16	47.159472	50	0.242424
DYSF	8291	broad.mit.edu	hg19	2	71755450	71755450	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:71755450C>T	ENST00000258104.3	+	13	1480	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000409651.1_Silent_p.N433N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000410041.1_Silent_p.N433N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	401	C2 3.		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111					TGATGGACAACGTGAAACAGA	0.537	0	128.0	95.0	106.0	2	71755450	2203	4300	6503	SO:0001819	synonymous_variant	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636		3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B	8320700	Standard	NM_003494	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000410020.3:c.1299C>T	2.37:g.71755450C>T		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	ENST00000410020.3	37	CCDS46328.1																																																																																			DYSF-007	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327477.2		10.492243	0	1	24	0	0	1	0	NM_003494	4	11.401236	12	0.250000
ANKRD20A11P	0	broad.mit.edu	hg19	21	15352075	15352075	+	RNA	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr21:15352075G>A	ENST00000344693.5	-	0	683					NR_027270.1																GCCAGACAGCGCTCCATCTCC	0.667	0													21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559		42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81		Standard	NR_027270	Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352075G>A			ENST00000344693.5	37																																																																																				ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1		5.980328	0	5	27	0	0	1	0		4	9.657279	25	0.137931
TTN	7273	broad.mit.edu	hg19	2	179583473	179583473	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:179583473C>T	ENST00000589042.1	-	84	24678	c.24454G>A	c.(24454-24456)Gtt>Att	p.V8152I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7835I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7835	Ig-like 64.			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCATTTGTAACGAGGCAAGAA	0.423	0	76.0	77.0	77.0	2	179583473	1988	4166	6154	SO:0001583	missense	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	2129545, 10051295	Standard	NM_003319	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.24454G>A	2.37:g.179583473C>T	ENSP00000467141:p.Val8152Ile	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	ENST00000589042.1	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233408	0.22626	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66616	0.2807	L	0.49350	1.555	0.39248	D	0.963987	B	0.16603	0.018	B	0.18263	0.021	T	0.65286	-0.6205	9	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	7835	Q8WZ42	TITIN_HUMAN	I	6908	ENSP00000343764:V6908I	ENSP00000343764:V6908I	V	-	1	0	TTN	179291718	0.429000	0.25530	0.598000	0.28837	0.995000	0.86356	1.079000	0.30766	2.861000	0.98227	0.650000	0.86243	GTT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450680.2		28.469555	0	25	90	0	0	1	0	NM_133378	12	32.690766	44	0.214286
HHAT	55733	broad.mit.edu	hg19	1	210522378	210522378	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:210522378A>G	ENST00000367010.1	+	2	286	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	20		multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	TTCCACTTCTATTCCTTCTAT	0.493	0	117.0	100.0	106.0	1	210522378	2203	4300	6503	SO:0001583	missense	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392		18270	protein-coding gene	gene with protein product		605743			11160356	Standard	NM_001170587	Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.59A>G	1.37:g.210522378A>G	ENSP00000355977:p.Tyr20Cys	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	a	17.80	3.479094	0.63849	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T	0.58210	2.01;0.35;1.62;1.99;2.01;2.01	5.01	3.89	0.44902	.	0.133891	0.52532	D	0.000080	T	0.62672	0.2447	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.986;0.986;0.998	P;P;D	0.66602	0.754;0.754;0.945	T	0.61108	-0.7129	10	0.48119	T	0.1	-4.3791	7.9863	0.30213	0.9024:0.0:0.0976:0.0	.	20;20;20	B7Z4D5;B7Z5I1;Q5VTY9	.;.;HHAT_HUMAN	C	20	ENSP00000416845:Y20C;ENSP00000444995:Y20C;ENSP00000442625:Y20C;ENSP00000375773:Y20C;ENSP00000261458:Y20C;ENSP00000355977:Y20C	ENSP00000261458:Y20C	Y	+	2	0	HHAT	208589001	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.407000	0.52644	0.880000	0.35969	0.533000	0.62120	TAT	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1		42.399675	0	12	63	0	0	1	0	NM_018194	15	45.290755	42	0.263158
MROH2B	133558	broad.mit.edu	hg19	5	41039566	41039566	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr5:41039566delA	ENST00000399564.4	-	20	2495	c.2045delT	c.(2044-2046)ttcfs	p.F682fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B												TCGATTCATGAAAAACTTTTC	0.323	0	46.0	44.0	45.0	5	41039566	1823	4071	5894	SO:0001589	frameshift_variant		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495	"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2	12477932	Standard	NM_173489	Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2045delT	5.37:g.41039566delA	ENSP00000382476:p.Phe682fs	Q68DM1|Q7Z4U4|Q8N7X3	ENST00000399564.4	37	CCDS47202.1																																																																																			MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	.	.		1	11					NM_173489	5		7	0.42
PANK4	55229	broad.mit.edu	hg19	1	2451274	2451274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:2451274delG	ENST00000378466.3	-	6	831	c.819delC	c.(817-819)gccfs	p.A273fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	273		coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	CGAAGCTGCTGGCGATGAGGT	0.682	0	18.0	22.0	21.0	1	2451274	2178	4274	6452	SO:0001589	frameshift_variant	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881		19366	protein-coding gene	gene with protein product		606162			11479594	Standard	XR_241034	Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.819delC	1.37:g.2451274delG	ENSP00000367727:p.Ala273fs	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	ENST00000378466.3	37	CCDS42.1																																																																																			PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	.	.		3	11						2		4	0.33
PRKDC	5591	broad.mit.edu	hg19	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			AGGCCCAGCCTTTTTTTCCCA	0.498	0	248.0	251.0	250.0	8	48746799	1981	4176	6157	SO:0001589	frameshift_variant		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	7638222	Standard	NM_001081640	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	ENST00000314191.2	37																																																																																				PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		.	.		-6	285					NM_001081640	7		386	0.02
