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
MYO15A	51168	broad.mit.edu	hg19	17	18047195	18047195	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:18047195G>T	ENST00000205890.5	+	28	6396	c.6058G>T	c.(6058-6060)Gcc>Tcc	p.A2020S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2020	Neck or regulatory domain.	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)				CCTCGGGCTGGCCCAGGTGCC	0.642	0	21.0	25.0	23.0	17	18047195	2062	4198	6260	SO:0001583	missense	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	9603736	Standard	NM_016239	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6058G>T	17.37:g.18047195G>T	ENSP00000205890:p.Ala2020Ser	B4DFC7	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001985	0.19121	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.98	-5.43	0.02632	.	.	.	.	.	T	0.71298	0.3323	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59663	-0.7412	9	0.08179	T	0.78	.	1.339	0.02150	0.1737:0.3149:0.2678:0.2436	.	2020	Q9UKN7	MYO15_HUMAN	S	2020	ENSP00000205890:A2020S	ENSP00000205890:A2020S	A	+	1	0	MYO15A	17987920	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.163000	0.09997	-1.249000	0.02500	-1.415000	0.01116	GCC	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		35.931665	1	6	17	0	3.07112e-06	1	3.19908e-06	NM_016239	11	36.986756	3	0.785714
CA7	766	broad.mit.edu	hg19	16	66887373	66887373	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:66887373G>C	ENST00000394069.3	+	7	1030	c.599G>C	c.(598-600)cGc>cCc	p.R200P	CA7_ENST00000338437.2_Missense_Mutation_p.R256P	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	256		one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	CTGAAGGGCCGCGTGGTAAAG	0.592	0	42.0	40.0	41.0	16	66887373	2200	4300	6500	SO:0001583	missense		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770			1783392	Standard	XM_005256135	Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.767G>C	16.37:g.66887373G>C	ENSP00000345659:p.Arg256Pro	Q541F0|Q86YU0	ENST00000338437.2	37	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866597	0.72065	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.78707	-1.2;-1.2	5.18	4.22	0.49857	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.105223	0.64402	D	0.000008	D	0.92492	0.7616	H	0.98769	4.325	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94532	0.7737	10	0.87932	D	0	-8.7296	12.7996	0.57578	0.0805:0.0:0.9195:0.0	.	256	P43166	CAH7_HUMAN	P	256;200	ENSP00000345659:R256P;ENSP00000377632:R200P	ENSP00000345659:R256P	R	+	2	0	CA7	65444874	1.000000	0.71417	0.917000	0.36280	0.777000	0.43975	8.592000	0.90828	1.316000	0.45131	-0.258000	0.10820	CGC	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1		-0.407282	0	3	44	0	0	1	0		3	7.005640	37	0.075000
OR2L2	26246	broad.mit.edu	hg19	1	248201776	248201776	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:248201776C>G	ENST00000366479.2	+	1	303	c.207C>G	c.(205-207)gaC>gaG	p.D69E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	69		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)		CCCTCATTGACCTAAATTACA	0.388	0	284.0	260.0	268.0	1	248201776	2203	4300	6503	SO:0001583	missense	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663	"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12	1370859	Standard	NM_001004686	Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.207C>G	1.37:g.248201776C>G	ENSP00000355435:p.Asp69Glu	Q2M3T5	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.250922	0.22880	.	.	ENSG00000203663	ENST00000366479	T	0.66460	-0.21	1.9	-0.286	0.12862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33572	U	0.004779	T	0.59155	0.2173	M	0.65677	2.01	0.09310	N	1	P	0.40553	0.721	B	0.40134	0.32	T	0.54977	-0.8212	10	0.62326	D	0.03	.	6.5569	0.22466	0.0:0.4672:0.0:0.5328	.	69	Q8NH16	OR2L2_HUMAN	E	69	ENSP00000355435:D69E	ENSP00000355435:D69E	D	+	3	2	OR2L2	246268399	0.000000	0.05858	0.007000	0.13788	0.159000	0.22180	-1.686000	0.01929	0.037000	0.15575	0.194000	0.17425	GAC	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1		104.711349	0	-19	197	0	0	1	0	NM_001004686	34	108.565580	78	0.303571
OBSL1	23363	broad.mit.edu	hg19	2	220432798	220432798	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:220432798C>T	ENST00000404537.1	-	2	1317	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	421	Ig-like 4.	cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	ACGTTGGCCACGGTGCGCACC	0.622	0	71.0	79.0	76.0	2	220432798	2150	4244	6394	SO:0001583	missense	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991			9734811	Standard	NM_015311	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1261G>A	2.37:g.220432798C>T	ENSP00000385636:p.Val421Met	A4KVA4|A4KVA5|Q96IW3|S4R3M6	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919854	0.73098	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.50548	3.53;3.53;3.53;3.53;0.74	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57577	0.2063	L	0.54323	1.7	0.37490	D	0.91636	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.945;0.984	T	0.59658	-0.7413	9	0.32370	T	0.25	.	6.1951	0.20546	0.0:0.7843:0.0:0.2157	.	421;8;421	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	M	421;421;421;421;8	ENSP00000265318:V421M;ENSP00000385636:V421M;ENSP00000362983:V421M;ENSP00000362980:V421M;ENSP00000289656:V8M	ENSP00000265318:V421M	V	-	1	0	OBSL1	220141042	0.922000	0.31269	0.962000	0.40283	0.969000	0.65631	3.139000	0.50577	2.694000	0.91930	0.650000	0.86243	GTG	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		87.631196	0	-1	115	0	0	1	0		30	88.633291	49	0.379747
IVL	3713	broad.mit.edu	hg19	1	152883896	152883896	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:152883896G>C	ENST00000368764.3	+	2	1687	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D	IVL_ENST00000392667.2_Missense_Mutation_p.E395D			P07476	INVO_HUMAN	involucrin	541	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].	isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		ggcagctggagcagcCTGTGT	0.587	0	53.0	53.0	53.0	1	152883896	2203	4300	6503	SO:0001583	missense	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207		6187	protein-coding gene	gene with protein product		147360			2873896	Standard	NM_005547	Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1623G>C	1.37:g.152883896G>C	ENSP00000357753:p.Glu541Asp	Q5T7P4	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367675	0.42003	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.18810	2.19;3.0	3.88	0.895	0.19247	.	.	.	.	.	T	0.16938	0.0407	L	0.61218	1.895	0.24190	N	0.995553	D	0.65815	0.995	D	0.69307	0.963	T	0.10847	-1.0612	9	0.15066	T	0.55	.	5.6123	0.17412	0.1569:0.0:0.679:0.1641	.	541	P07476	INVO_HUMAN	D	541;395	ENSP00000357753:E541D;ENSP00000376435:E395D	ENSP00000357753:E541D	E	+	3	2	IVL	151150520	0.004000	0.15560	0.004000	0.12327	0.068000	0.16541	0.077000	0.14738	0.207000	0.20607	0.563000	0.77884	GAG	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1		22.926792	0	14	36	0	0	1	0	NM_005547	7	22.999517	5	0.583333
ANKRD19P	0	broad.mit.edu	hg19	9	95599650	95599650	+	RNA	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr9:95599650G>C	ENST00000473204.1	+	0	1731																					ACCTGCTGCAGCTCCTGTACC	0.662	0											BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984		22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19		Standard	NR_026868	Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599650G>C		A8K853|Q17RD3	ENST00000473204.1	37																																																																																				ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3		34.725559	0	-21	16	0	0	1	0	NR_026868	11	34.735931	10	0.523810
MINK1	50488	broad.mit.edu	hg19	17	4798399	4798399	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:4798399G>A	ENST00000355280.6	+	25	3143	c.2947G>A	c.(2947-2949)Gac>Aac	p.D983N	MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000453408.3_Missense_Mutation_p.D963N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	983	Mediates interaction with RAP2A.	JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6					CACTCGGCTCGACCAGCTGCA	0.602	0	412.0	382.0	392.0	17	4798399	2036	4176	6212	SO:0001583	missense	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503		17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""		10708748, 12087176	Standard	NM_015716	Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2947G>A	17.37:g.4798399G>A	ENSP00000347427:p.Asp983Asn		ENST00000355280.6	37	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737018	0.69304	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.74632	-0.84;-0.86;-0.84	5.11	5.11	0.69529	.	0.177372	0.48767	D	0.000161	T	0.63212	0.2492	L	0.34521	1.04	0.45690	D	0.998601	B;P;B;P	0.34546	0.272;0.456;0.327;0.456	B;B;B;B	0.24701	0.055;0.034;0.015;0.034	T	0.67684	-0.5607	10	0.62326	D	0.03	.	16.0869	0.81060	0.0:0.0:1.0:0.0	.	946;963;983;954	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	N	983;963;954	ENSP00000347427:D983N;ENSP00000406487:D963N;ENSP00000269296:D954N	ENSP00000269296:D954N	D	+	1	0	MINK1	4739175	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	5.526000	0.67116	2.655000	0.90218	0.655000	0.94253	GAC	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1		142.805309	0	13	180	0	0	1	0	NM_015716	47	143.792463	70	0.401709
OR4E2	26686	broad.mit.edu	hg19	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)	GTTTTTTTCACGAAATCATAT	0.393	0	33.0	30.0	31.0	14	22134222	1924	4142	6066	SO:0001583	missense		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977	"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product						Standard	NM_001001912	Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met	Q6IET6|Q96R62	ENST00000408935.1	37	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	OR4E2	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1		13.367488	0	-2	25	0	0	1	0		5	14.167134	13	0.277778
TLDC1	57707	broad.mit.edu	hg19	16	84520354	84520354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:84520354G>A	ENST00000343629.6	-	5	1023	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	TLDC1_ENST00000535580.1_Nonsense_Mutation_p.Q254*	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1												CCACAGAGCTGGGAGAAGCTG	0.597	0	68.0	62.0	64.0	16	84520354	2200	4300	6500	SO:0001587	stop_gained	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950		29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609	10997877	Standard	NM_020947	Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.841C>T	16.37:g.84520354G>A	ENSP00000343635:p.Gln281*	Q8IZ64|Q9HCG3|Q9NTE8	ENST00000343629.6	37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267690	0.97426	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	.	.	.	5.32	4.33	0.51752	.	0.054163	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-38.7056	14.4712	0.67517	0.0:0.0:0.8529:0.1471	.	.	.	.	X	281;254	.	ENSP00000343635:Q281X	Q	-	1	0	KIAA1609	83077855	1.000000	0.71417	0.983000	0.44433	0.773000	0.43773	4.555000	0.60767	2.476000	0.83614	0.655000	0.94253	CAG	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1		40.637228	0	-15	50	0	0	1	0	NM_020947	14	41.548009	27	0.341463
MGAT5	4249	broad.mit.edu	hg19	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)	GCAAATTATGCCCAATCGAAA	0.413	0	145.0	139.0	141.0	2	135107438	2203	4300	6503	SO:0001583	missense	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774			8292036	Standard	NM_002410	Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val	D3DP70	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	MGAT5	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3		-7.129610	0	-23	84	0	0	1	0	NM_002410	3	6.318004	59	0.048387
FAM71A	149647	broad.mit.edu	hg19	1	212798742	212798742	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:212798742C>T	ENST00000294829.3	+	1	954	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	TTACCTCTTGCGGCCACCCAT	0.517	0	108.0	113.0	112.0	1	212798742	2203	4300	6503	SO:0001583	missense		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771		26541	protein-coding gene	gene with protein product					12477932	Standard	NM_153606	Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.523C>T	1.37:g.212798742C>T	ENSP00000294829:p.Arg175Trp	Q5VTZ1	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540844	0.13250	.	.	ENSG00000162771	ENST00000294829	T	0.26660	1.72	4.54	2.6	0.31112	.	0.279284	0.23893	N	0.043524	T	0.46171	0.1379	M	0.84846	2.72	0.09310	N	1	D	0.61080	0.989	D	0.64237	0.923	T	0.31779	-0.9931	10	0.66056	D	0.02	-6.1149	5.4741	0.16686	0.2046:0.6922:0.0:0.1032	.	175	Q8IYT1	FA71A_HUMAN	W	175	ENSP00000294829:R175W	ENSP00000294829:R175W	R	+	1	2	FAM71A	210865365	0.084000	0.21492	0.004000	0.12327	0.174000	0.22865	0.277000	0.18734	0.607000	0.29982	0.563000	0.77884	CGG	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1		185.451920	0	-17	170	0	0	1	0	NM_153606	61	186.184833	83	0.423611
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	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		82.904633	0	-30	82	0	0	1	0	NM_002072	27	84.198665	48	0.360000
LRRC42	115353	broad.mit.edu	hg19	1	54426038	54426038	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:54426038G>A	ENST00000371370.3	+	5	1136	c.615G>A	c.(613-615)caG>caA	p.Q205Q	LRRC42_ENST00000319223.4_Silent_p.Q205Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	205					breast(2)|kidney(1)|large_intestine(1)|lung(5)	9					GTGTAACTCAGCTCCACCTGA	0.363	0	124.0	123.0	123.0	1	54426038	2203	4300	6503	SO:0001819	synonymous_variant	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212		28792	protein-coding gene	gene with protein product					12477932	Standard	NM_001256409	Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.615G>A	1.37:g.54426038G>A		D3DQ46|Q8N2Q8	ENST00000371370.3	37	CCDS585.1																																																																																			LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1		94.442829	0	1	75	0	0	1	0	NM_052940	30	94.561627	36	0.454545
UBL3	5412	broad.mit.edu	hg19	13	30341440	30341440	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr13:30341440C>A	ENST00000380680.4	-	5	1451	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	102			intracellular|plasma membrane		large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	CACGATTCCTCTGACCTAGGG	0.418	0	101.0	86.0	91.0	13	30341440	2203	4300	6503	SO:0001583	missense	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042		12504	protein-coding gene	gene with protein product		604711		PNSC1	10375635	Standard	NM_007106	Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.306G>T	13.37:g.30341440C>A	ENSP00000370055:p.Gln102His	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	ENST00000380680.4	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803775	0.70682	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.84	2.14	0.27477	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.65975	2.015	0.58432	D	0.999996	P	0.46952	0.887	P	0.47118	0.538	T	0.40365	-0.9567	9	0.36615	T	0.2	-14.1466	5.9535	0.19261	0.0:0.5674:0.1296:0.303	.	102	O95164	UBL3_HUMAN	H	102	.	ENSP00000370055:Q102H	Q	-	3	2	UBL3	29239440	0.997000	0.39634	0.998000	0.56505	0.941000	0.58515	0.539000	0.23175	0.088000	0.17205	0.557000	0.71058	CAG	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1		-1.309407	1	10	65	0	0.004672	1	0.004672	NM_007106	3	6.373218	38	0.073171
CEP152	22995	broad.mit.edu	hg19	15	49064766	49064766	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr15:49064766A>G	ENST00000380950.2	-	13	1887	c.1700T>C	c.(1699-1701)tTa>tCa	p.L567S	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	567		centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	GTCATTTTGTAACTGAGACAC	0.388	0	168.0	153.0	157.0	15	49064766	1902	4130	6032	SO:0001583	missense	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20						29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4	14654843, 21131973	Standard	NM_014985	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1700T>C	15.37:g.49064766A>G	ENSP00000370337:p.Leu567Ser	E7ER66|Q17RV1|Q6NTA0	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429259	0.83776	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84660	-1.88;-1.88;-1.88	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.91436	0.7297	M	0.78049	2.395	0.40781	D	0.98317	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89976	0.4097	10	0.22706	T	0.39	-9.033	14.6461	0.68762	1.0:0.0:0.0:0.0	.	474;567;567	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	567;474;567;567	ENSP00000370337:L567S;ENSP00000321000:L474S;ENSP00000382271:L567S	ENSP00000321000:L474S	L	-	2	0	CEP152	46852058	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	6.222000	0.72249	2.333000	0.79357	0.482000	0.46254	TTA	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		-17.857655	0	-19	121	0	0	1	0	NM_014985	3	6.383278	97	0.030000
RPH3A	22895	broad.mit.edu	hg19	12	113285537	113285537	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr12:113285537G>A	ENST00000389385.4	+	5	617	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000551052.1_Silent_p.Q36Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Silent_p.Q40Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	40		intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)	CCGGTGGTCAGCCTGACAGGC	0.532	0	77.0	70.0	72.0	12	113285537	2203	4300	6503	SO:0001819	synonymous_variant	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169	"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""		10231032, 7822236	Standard	NM_014954	Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.120G>A	12.37:g.113285537G>A		B7Z3C3|Q96AE0	ENST00000389385.4	37	CCDS44979.1																																																																																			RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		-2.949267	0	-23	73	0	0	1	0	NM_014954	4	8.191700	54	0.068966
ABCD1	215	broad.mit.edu	hg19	X	153008790	153008790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:153008790delC	ENST00000218104.3	+	9	2380	c.1981delC	c.(1981-1983)cccfs	p.P661fs	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	661	ABC transporter.	fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CACCCACCGGCCCTCCCTGTG	0.692	0	19.0	16.0	17.0	X	153008790	2186	4274	6460	SO:0001589	frameshift_variant	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986	"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD	8441467, 6795626	Standard	NM_000033	Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1981delC	X.37:g.153008790delC	ENSP00000218104:p.Pro661fs	Q6GTZ2	ENST00000218104.3	37	CCDS14728.1																																																																																			ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	.	.		4	12					NM_000033	2		4	0.33
RP5-1158E12.1	0	broad.mit.edu	hg19	X	45772800	45772800	+	RNA	DEL	A	A	-			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:45772800delA	ENST00000420585.1	-	0	668																					GATGGTGCAGAAATATTAGGC	0.443	0																																				X.37:g.45772800delA			ENST00000420585.1	37																																																																																				RP5-1158E12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056345.1	.	.		5	18						2		4	0.33