#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCN4A	6329	broad.mit.edu	37	17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000435607.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000578147.1_Missense_Mutation_p.E34D|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCTCCTCCTCCACCGCCC	0.622																																						ENST00000578147.1																			2	Substitution - Missense(2)	p.E34D(2)	prostate(2)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(100-102)gaG>gaC		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						22.0	25.0	24.0					17																	62050100		2104	4214	6318	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62050100C>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.102G>C	17.37:g.62050100C>G	ENSP00000396320:p.Glu34Asp					SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D	p.E34D			P35499	SCN4A_HUMAN			1	178	-			34					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.102G>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497118	0.64186	.	.	ENSG00000007314	ENST00000435607	D	0.96802	-4.13	4.39	3.39	0.38822	.	0.000000	0.64402	D	0.000001	D	0.96247	0.8776	M	0.79805	2.47	0.42629	D	0.993373	B	0.34329	0.449	B	0.42959	0.403	D	0.96290	0.9213	10	0.52906	T	0.07	.	11.7916	0.52073	0.0:0.9116:0.0:0.0884	.	34	P35499	SCN4A_HUMAN	D	34	ENSP00000396320:E34D	ENSP00000396320:E34D	E	-	3	2	SCN4A	59403832	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	1.553000	0.36255	2.283000	0.76528	0.305000	0.20034	GAG		0.622	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		16	22	0	0	0	0.500413	0	16	22				
RNF6	6049	broad.mit.edu	37	13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination. {ECO:0000250}.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408																																						ENST00000381588.4																			1	Substitution - Nonsense(1)	p.Q647*(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1939-1941)Caa>Taa		ring finger protein (C3H2C3 type) 6							157.0	143.0	148.0					13																	26788080		2203	4300	6503	SO:0001587	stop_gained	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788080G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1939C>T	13.37:g.26788080G>A	ENSP00000371000:p.Gln647*					RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*	p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2691	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	647			Required for polyubiquitination (By similarity).		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	c.1939C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	37	6.377626	0.97520	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	5.01	5.01	0.66863	.	0.139939	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8366	13.7959	0.63171	0.0:0.0:0.8468:0.1532	.	.	.	.	X	647;647;647;291	.	ENSP00000342121:Q647X	Q	-	1	0	RNF6	25686080	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.268000	0.58883	2.763000	0.94921	0.557000	0.71058	CAA		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		82	39	0	0	0	0.870114	0	82	39				
TRAPPC10	7109	broad.mit.edu	37	21	45503102	45503102	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572																																						ENST00000291574.4																			1	Substitution - coding silent(1)	p.A719A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2155-2157)gcT>gcC		trafficking protein particle complex 10							89.0	88.0	88.0					21																	45503102		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503102T>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2157T>C	21.37:g.45503102T>C							p.A719A	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2332	+			719					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2157T>C	CCDS13704.1																																																																																				0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		62	217	0	0	0	0.870114	0	62	217				
MEF2C	4208	broad.mit.edu	37	5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000437473.2	-	7	1097	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000504921.2_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413										HNSCC(66;0.2)																												ENST00000504921.2																			2	Substitution - Missense(2)	p.V225A(1)|p.V227A(1)	prostate(2)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(679-681)gTc>gCc		myocyte enhancer factor 2C							88.0	85.0	86.0					5																	88027676		1862	4089	5951	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027676A>G	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.680T>C	5.37:g.88027676A>G	ENSP00000396219:p.Val227Ala	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A	p.V227A			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1352	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	227					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.680T>C	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387572	0.42308	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87029	0.14;0.12;0.19;0.17;0.17;0.11;-0.16;-0.21;-0.11;0.49;-2.2;-2.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	L	0.57536	1.79	0.80722	D	1	P;P;D;D	0.62365	0.76;0.732;0.98;0.991	B;P;D;P	0.69824	0.269;0.561;0.966;0.835	D	0.86539	0.1827	10	0.02654	T	1	-4.8828	16.8222	0.85835	1.0:0.0:0.0:0.0	.	225;245;227;227	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	A	245;225;227;227;227;227;227;227;227;179;225;225	ENSP00000340874:V245A;ENSP00000389610:V225A;ENSP00000421925:V227A;ENSP00000426665:V227A;ENSP00000396219:V227A;ENSP00000422390:V227A;ENSP00000425636:V227A;ENSP00000423597:V227A;ENSP00000424606:V227A;ENSP00000441153:V179A;ENSP00000423826:V225A;ENSP00000423656:V225A	ENSP00000340874:V245A	V	-	2	0	MEF2C	88063432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.795000	0.69074	2.371000	0.80710	0.533000	0.62120	GTC		0.413	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		28	45	0	0	0	0.693898	0	28	45				
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4																			3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala						p.T4A	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			3	69	0	0	0	0.150653	0	3	69				
PROZ	8858	broad.mit.edu	37	13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000375547.2	+	7	638	c.631A>C	c.(631-633)Aat>Cat	p.N211H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000342783.4_Missense_Mutation_p.N233H	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303																																						ENST00000342783.4																			1	Substitution - Missense(1)	p.N211H(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(697-699)Aat>Cat		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						60.0	66.0	64.0					13																	113824784		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113824784A>C	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.631A>C	13.37:g.113824784A>C	ENSP00000364697:p.Asn211His					PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211H	p.N233H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	704	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	211			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.697A>C	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922717	0.18056	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89746	-2.56;-2.56	4.02	-2.29	0.06805	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.358290	0.30455	U	0.009598	D	0.87951	0.6307	L	0.56124	1.755	0.09310	N	1	D;P	0.69078	0.997;0.884	D;B	0.63192	0.912;0.362	T	0.78902	-0.2021	10	0.87932	D	0	.	1.357	0.02184	0.4998:0.1378:0.2286:0.1338	.	233;211	P22891-2;P22891	.;PROZ_HUMAN	H	211;233	ENSP00000364697:N211H;ENSP00000344458:N233H	ENSP00000344458:N233H	N	+	1	0	PROZ	112872785	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.099000	0.15210	-0.776000	0.04578	0.260000	0.18958	AAT		0.303	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		5	70	0	0	0	0.184627	0	5	70				
REG4	83998	broad.mit.edu	37	1	120342381	120342381	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000256585.5_Silent_p.Q90Q|REG4_ENST00000530654.1_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522																																						ENST00000354219.1																			1	Substitution - coding silent(1)	p.Q90Q(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(268-270)caG>caA		regenerating islet-derived family, member 4							159.0	147.0	151.0					1																	120342381		2203	4300	6503	SO:0001819	synonymous_variant	83998					extracellular region	sugar binding	g.chr1:120342381C>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.270G>A	1.37:g.120342381C>T						REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	709	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	90			C-type lectin.		Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	c.270G>A	CCDS906.1																																																																																				0.522	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		20	322	0	0	0	0.592651	0	20	322				
ASB6	140459	broad.mit.edu	37	9	132400168	132400168	+	Silent	SNP	C	C	T	rs200707909		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:132400168C>T	ENST00000277458.4	-	6	1332	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ASB6_ENST00000450050.2_Silent_p.P310P|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.P389P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CCACAGGCCACGGCTGAAGGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19127	0.001		0.0	False		,,,				2504	0.0					ENST00000277458.4																			1	Substitution - coding silent(1)	p.P389P(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(1165-1167)ccG>ccA		ankyrin repeat and SOCS box containing 6							58.0	56.0	57.0					9																	132400168		2203	4300	6503	SO:0001819	synonymous_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132400168C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1167G>A	9.37:g.132400168C>T						ASB6_ENST00000450050.2_Silent_p.P310P|ASB6_ENST00000277459.4_3'UTR	p.P389P	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1332	-		Ovarian(14;0.00556)	389			SOCS box.		Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	c.1167G>A	CCDS6924.1																																																																																				0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		48	63	0	0	0	0.870114	0	48	63				
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						ENST00000304883.2																			1	Substitution - Missense(1)	p.V403M(1)	prostate(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1207-1209)Gtg>Atg		tachykinin receptor 3							235.0	217.0	223.0					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.V403M	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1347	-		Hepatocellular(203;0.217)	403					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		166	232	0	0	0	0.870114	0	166	232				
MAML3	55534	broad.mit.edu	37	4	141074098	141074098	+	Silent	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:141074098G>T	ENST00000509479.2	-	1	1240	c.384C>A	c.(382-384)ggC>ggA	p.G128G		NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.G128G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTTTGCCGGTGCCGGCGCCCG	0.677																																						ENST00000509479.2																			4	Substitution - coding silent(4)	p.G128G(4)	prostate(4)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(382-384)ggC>ggA		mastermind-like 3 (Drosophila)							31.0	37.0	35.0					4																	141074098		2017	4181	6198	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:141074098G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.384C>A	4.37:g.141074098G>T							p.G128G	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			1	1240	-	all_hematologic(180;0.162)		128						Silent	SNP	ENST00000509479.2	37	c.384C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365799	0.24684	.	.	ENSG00000196782	ENST00000502696	.	.	.	3.54	0.431	0.16523	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	.	6.3203	0.21215	0.2073:0.2276:0.5651:0.0	.	.	.	.	E	9	.	.	A	-	2	0	MAML3	141293548	0.982000	0.34865	0.949000	0.38748	0.776000	0.43924	2.689000	0.46993	0.126000	0.18424	0.491000	0.48974	GCA		0.677	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	31	1	0	0.000602214	0.184627	0.000628116	5	31				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			60	61	0	0	0	0.870114	0	60	61				
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:161512867G>A	ENST00000436743.1	-	6	854	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000367969.3_Nonsense_Mutation_p.R270*	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R270*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGAGCTTCGAATGTTTGTC	0.443																																						ENST00000367969.3																			2	Substitution - Nonsense(2)	p.R270*(2)	prostate(1)|lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(808-810)Cga>Tga		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						154.0	151.0	152.0					1																	161512867		2203	4300	6503	SO:0001587	stop_gained	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512867G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.700C>T	1.37:g.161512867G>A	ENSP00000416607:p.Arg234*					FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*	p.R270*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	991	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		234					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Nonsense_Mutation	SNP	ENST00000436743.1	37	c.808C>T	CCDS44266.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	4	0.005277044854881266	G	14.57	2.573951	0.45902	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.38171	D	0.93934	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.8746	0.52539	0.0:0.0:1.0:0.0	rs1042207;rs3171041	.	.	.	X	270;269;234;234;234	.	ENSP00000356944:R234X	R	-	1	2	FCGR3A	159779491	0.309000	0.24518	0.098000	0.21074	0.003000	0.03518	2.133000	0.42093	2.514000	0.84764	0.591000	0.81541	CGA		0.443	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		4	154	0	0	0	0.184627	0	4	154				
RP1L1	94137	broad.mit.edu	37	8	10464916	10464916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10464916G>A	ENST00000382483.3	-	4	6915	c.6692C>T	c.(6691-6693)cCg>cTg	p.P2231L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2311	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P2231L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGTCTCTAC	0.612																																						ENST00000382483.3																			1	Substitution - Missense(1)	p.P2231L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6691-6693)cCg>cTg		retinitis pigmentosa 1-like 1							100.0	107.0	105.0					8																	10464916		1907	4115	6022	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464916G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6692C>T	8.37:g.10464916G>A	ENSP00000371923:p.Pro2231Leu						p.P2231L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6915	-			2231					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6692C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	3.027	-0.200454	0.06219	.	.	ENSG00000183638	ENST00000382483	T	0.13657	2.57	2.86	-5.72	0.02406	.	.	.	.	.	T	0.07324	0.0185	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23190	-1.0195	9	0.46703	T	0.11	.	3.4719	0.07570	0.1019:0.1844:0.5541:0.1597	.	2231	A6NKC6	.	L	2231	ENSP00000371923:P2231L	ENSP00000371923:P2231L	P	-	2	0	RP1L1	10502326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.872000	0.00093	-3.243000	0.00206	-1.626000	0.00786	CCG		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			128	52	0	0	0	0.870114	0	128	52				
KLC2	64837	broad.mit.edu	37	11	66029325	66029325	+	Missense_Mutation	SNP	C	C	T	rs373637724		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:66029325C>T	ENST00000417856.1	+	3	584	c.341C>T	c.(340-342)gCg>gTg	p.A114V	RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.A114V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAGGAGCTGGCGGGGACACAG	0.627																																						ENST00000417856.1																			1	Substitution - Missense(1)	p.A114V(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(340-342)gCg>gTg		kinesin light chain 2		C	,VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	51.0	51.0	51.0		,341,341,341	4.2	0.9	11		51	1,8589	1.2+/-3.3	0,1,4294	no	intron,missense,missense,missense	KLC2	NM_001134774.1,NM_001134775.1,NM_001134776.1,NM_022822.2	,64,64,64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,probably-damaging,probably-damaging	,114/623,114/623,114/623	66029325	1,12989	2200	4295	6495	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66029325C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.341C>T	11.37:g.66029325C>T	ENSP00000399403:p.Ala114Val					KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|KLC2_ENST00000421552.1_Intron	p.A114V	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN			3	584	+			114					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.341C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039908	0.93630	0.0	1.16E-4	ENSG00000174996	ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757	T;T;D;T;T;T;D	0.83591	0.75;0.75;-1.74;0.75;0.75;0.75;-1.74	4.15	4.15	0.48705	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000001	D	0.91459	0.7304	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.946	D	0.92980	0.6405	10	0.72032	D	0.01	-14.3639	15.3609	0.74472	0.0:1.0:0.0:0.0	.	114;114	A8MX29;Q9H0B6	.;KLC2_HUMAN	V	114	ENSP00000399403:A114V;ENSP00000437026:A114V;ENSP00000396952:A114V;ENSP00000377631:A114V;ENSP00000314837:A114V;ENSP00000377641:A114V;ENSP00000431253:A114V	ENSP00000314837:A114V	A	+	2	0	KLC2	65785901	1.000000	0.71417	0.916000	0.36221	0.827000	0.46813	7.526000	0.81920	2.140000	0.66376	0.561000	0.74099	GCG		0.627	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	49	0	0	0	0.115264	0	3	49				
DEPDC1	55635	broad.mit.edu	37	1	68947728	68947728	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353																																						ENST00000456315.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.e8+1		DEP domain containing 1							64.0	60.0	61.0					1																	68947728		1568	3581	5149	SO:0001630	splice_region_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947728C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1762+1G>T	1.37:g.68947728C>A						RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron		NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1877	-								A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Splice_Site	SNP	ENST00000456315.2	37		CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188727	0.57909	.	.	ENSG00000024526	ENST00000456315	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6613	0.95875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1	68720316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.639000	0.89480	0.650000	0.86243	.		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	Intron	87	111	1	0	1.5608e-48	0.870114	1.82407e-48	87	111				
TNKS	8658	broad.mit.edu	37	8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478																																						ENST00000310430.6																			3	Substitution - Missense(3)	p.T905S(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2713-2715)Act>Tct		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							95.0	94.0	95.0					8																	9605603		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605603A>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2713A>T	8.37:g.9605603A>T	ENSP00000311579:p.Thr905Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	p.T905S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2739	+			905					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2713A>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	32	5.160080	0.94727	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.79247	-1.25;1.75	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86683	0.1918	10	0.66056	D	0.02	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	905	O95271	TNKS1_HUMAN	S	905;668	ENSP00000311579:T905S;ENSP00000429890:T668S	ENSP00000311579:T905S	T	+	1	0	TNKS	9643013	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.109000	0.94291	2.243000	0.73865	0.528000	0.53228	ACT		0.478	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		63	36	0	0	0	0.870114	0	63	36				
TBC1D2	55357	broad.mit.edu	37	9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375064.1	-	5	961	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.V308G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(922-924)gTg>gGg		TBC1 domain family, member 2							130.0	113.0	119.0					9																	100991289		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991289A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.923T>G	9.37:g.100991289A>C	ENSP00000364205:p.Val308Gly					TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000493589.2_5'UTR	p.V308G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	1014	-		Myeloproliferative disorder(762;0.0255)	308			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.923T>G		.	.	.	.	.	.	.	.	.	.	A	12.18	1.861622	0.32884	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14266	2.52;2.92;2.52	5.49	1.72	0.24424	.	0.216928	0.39985	N	0.001210	T	0.16385	0.0394	M	0.66939	2.045	0.27289	N	0.957898	B;B	0.31548	0.22;0.328	B;B	0.36766	0.154;0.232	T	0.13124	-1.0521	10	0.87932	D	0	.	6.9122	0.24340	0.6961:0.0:0.3039:0.0	.	308;308	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	G	308;308;90	ENSP00000364205:V308G;ENSP00000364207:V308G;ENSP00000341567:V90G	ENSP00000341567:V90G	V	-	2	0	TBC1D2	100031110	0.963000	0.33076	0.054000	0.19295	0.821000	0.46438	1.788000	0.38714	0.041000	0.15688	0.533000	0.62120	GTG		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		61	88	0	0	0	0.870114	0	61	88				
OSBPL3	26031	broad.mit.edu	37	7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642																																						ENST00000313367.2																			1	Substitution - Missense(1)	p.E580G(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1738-1740)gAa>gGa		oxysterol binding protein-like 3							63.0	66.0	65.0					7																	24874112		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874112T>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1739A>G	7.37:g.24874112T>C	ENSP00000315410:p.Glu580Gly					OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G	p.E580G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2190	-			580					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1739A>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299689	0.81136	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.85	5.85	0.93711	.	0.095761	0.64402	D	0.000001	T	0.64114	0.2569	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.992;0.985;0.985;0.968;0.988	D;D;P;P;P;D	0.73380	0.98;0.951;0.856;0.856;0.738;0.911	T	0.69680	-0.5080	10	0.87932	D	0	-25.5918	16.2392	0.82399	0.0:0.0:0.0:1.0	.	513;544;513;549;544;580	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	G	580;549;544;513;549;544;513	ENSP00000315410:E580G;ENSP00000315331:E549G;ENSP00000315277:E544G;ENSP00000389779:E513G;ENSP00000379708:E549G;ENSP00000379706:E544G;ENSP00000386953:E513G	ENSP00000315410:E580G	E	-	2	0	OSBPL3	24840637	1.000000	0.71417	0.929000	0.37066	0.172000	0.22775	7.443000	0.80521	2.239000	0.73571	0.383000	0.25322	GAA		0.642	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			66	116	0	0	0	0.870114	0	66	116				
MAP7D2	256714	broad.mit.edu	37	X	20033399	20033399	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:20033399C>T	ENST00000379651.3	-	11	1586	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	523					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R523H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTCTCGAGACGCATCTGTTC	0.463																																						ENST00000379651.3																			2	Substitution - Missense(2)	p.R523H(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1567-1569)cGt>cAt		MAP7 domain containing 2							186.0	141.0	156.0					X																	20033399		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033399C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1568G>A	X.37:g.20033399C>T	ENSP00000368972:p.Arg523His					MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	p.R523H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			11	1586	-			523					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1568G>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194405	0.58017	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.6	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.66406	0.2786	M	0.89601	3.045	0.50039	D	0.999841	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.74044	-0.3791	10	0.87932	D	0	-2.9058	13.7633	0.62979	0.0:0.9242:0.0:0.0757	.	478;471;564;523;408	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	H	523;564;408;478;206;471	ENSP00000368972:R523H;ENSP00000368964:R564H;ENSP00000440691:R408H;ENSP00000388239:R478H;ENSP00000413301:R471H	ENSP00000368964:R564H	R	-	2	0	MAP7D2	19943320	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	3.918000	0.56432	1.138000	0.42230	-0.329000	0.08387	CGT		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		104	21	0	0	0	0.870114	0	104	21				
KHDRBS3	10656	broad.mit.edu	37	8	136554945	136554945	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554945C>T	ENST00000355849.5	+	3	666	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	86	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R86C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCTGAAGCGTTTACAAGA	0.368																																						ENST00000355849.5																			1	Substitution - Missense(1)	p.R86C(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(256-258)Cgt>Tgt		KH domain containing, RNA binding, signal transduction associated 3							122.0	128.0	126.0					8																	136554945		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554945C>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.256C>T	8.37:g.136554945C>T	ENSP00000348108:p.Arg86Cys					KHDRBS3_ENST00000520981.1_Intron	p.R86C	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	666	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		86			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.256C>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694485	0.68386	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.22134	1.97;1.97;1.97	5.82	3.99	0.46301	K Homology (1);	0.044642	0.85682	D	0.000000	T	0.49830	0.1580	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.54302	-0.8314	10	0.87932	D	0	-10.2283	10.0747	0.42353	0.279:0.5864:0.1346:0.0	.	86;86	O75525-2;O75525	.;KHDR3_HUMAN	C	86;58;59	ENSP00000348108:R86C;ENSP00000431022:R58C;ENSP00000430284:R59C	ENSP00000348108:R86C	R	+	1	0	KHDRBS3	136624127	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.922000	0.48860	0.768000	0.33290	0.655000	0.94253	CGT		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			87	369	0	0	0	0.870114	0	87	369				
MYCBP2	23077	broad.mit.edu	37	13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000544440.2	-	49	7106	c.7089G>A	c.(7087-7089)atG>atA	p.M2363I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M2401I					MYC binding protein 2, E3 ubiquitin protein ligase									p.M2363I(2)|p.M2401I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACGGATCAGCATATTCTCAC	0.368																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.M2363I(2)|p.M2401I(1)	prostate(3)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7201-7203)atG>atA		MYC binding protein 2, E3 ubiquitin protein ligase							155.0	141.0	146.0					13																	77718680		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77718680C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7089G>A	13.37:g.77718680C>T	ENSP00000444596:p.Met2363Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	p.M2401I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	49	7469	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2363						Missense_Mutation	SNP	ENST00000544440.2	37	c.7203G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097820	0.56075	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.83335	-1.71;-1.71;-1.71	5.48	5.48	0.80851	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	L	0.38838	1.175	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.81924	-0.0710	10	0.44086	T	0.13	.	17.5252	0.87798	0.0:1.0:0.0:0.0	.	2363	O75592	MYCB2_HUMAN	I	2363;2401;2363	ENSP00000349892:M2363I;ENSP00000384288:M2401I;ENSP00000444596:M2363I	ENSP00000349892:M2363I	M	-	3	0	MYCBP2	76616681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.580000	0.87095	0.561000	0.74099	ATG		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	106	0	0	0	0.520397	0	14	106				
HDAC6	10013	broad.mit.edu	37	X	48673411	48673411	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			1	Substitution - Missense(1)	p.H368Y(1)	prostate(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1102-1104)Cac>Tac		histone deacetylase 6	Vorinostat(DB02546)						27.0	24.0	25.0					X																	48673411		2201	4300	6501	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673411C>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1102C>T	X.37:g.48673411C>T	ENSP00000334061:p.His368Tyr					HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y	p.H368Y			Q9UBN7	HDAC6_HUMAN			14	1280	+			368			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1102C>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133573	0.77662	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70282	-0.47;-0.47;-0.47	4.84	4.84	0.62591	Histone deacetylase domain (2);	0.063319	0.64402	D	0.000009	T	0.79452	0.4448	M	0.64567	1.98	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.59948	0.866;0.866	T	0.80654	-0.1286	10	0.52906	T	0.07	-20.8055	14.2428	0.65969	0.0:1.0:0.0:0.0	.	358;368	B4DZN1;Q9UBN7	.;HDAC6_HUMAN	Y	382;368;368;368	ENSP00000398566:H382Y;ENSP00000334061:H368Y;ENSP00000365804:H368Y	ENSP00000334061:H368Y	H	+	1	0	HDAC6	48558355	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	6.810000	0.75216	2.234000	0.73211	0.544000	0.68410	CAC		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		7	6	0	0	0	0.387290	0	7	6				
KIF1A	547	broad.mit.edu	37	2	241658536	241658536	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:241658536G>A	ENST00000320389.7	-	45	4956	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1701W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1600	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1600W(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGGGCGCCGCACCACCACG	0.622																																						ENST00000498729.2																			1	Substitution - Missense(1)	p.R1600W(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5101-5103)Cgg>Tgg		kinesin family member 1A							83.0	97.0	92.0					2																	241658536		2158	4269	6427	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658536G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4798C>T	2.37:g.241658536G>A	ENSP00000322791:p.Arg1600Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R1600W	p.R1701W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5347	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1600					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5101C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872312	0.72180	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.77358	-1.09;-1.09	4.06	1.82	0.25136	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	D	0.87334	0.6151	M	0.85945	2.785	0.49915	D	0.999831	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87850	0.2657	10	0.87932	D	0	.	11.455	0.50176	0.0:0.0:0.4493:0.5507	.	1701;1600	F5H045;Q12756	.;KIF1A_HUMAN	W	1600;1701;1709	ENSP00000322791:R1600W;ENSP00000438388:R1701W	ENSP00000322791:R1600W	R	-	1	2	KIF1A	241307209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.996000	0.57009	0.634000	0.30469	0.467000	0.42956	CGG		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		51	192	0	0	0	0.870114	0	51	192				
ACBD5	91452	broad.mit.edu	37	10	27497258	27497258	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:27497258C>A	ENST00000375888.1	-	10	1412	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.A441S|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	450					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.A441S(1)|p.A406S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCACGAGGGCGATCTGCTCA	0.572																																						ENST00000396271.3																			2	Substitution - Missense(2)	p.A441S(1)|p.A406S(1)	prostate(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1321-1323)Gcc>Tcc		acyl-CoA binding domain containing 5							125.0	114.0	118.0					10																	27497258		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497258C>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1348G>T	10.37:g.27497258C>A	ENSP00000365049:p.Ala450Ser					ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S|ACBD5_ENST00000375888.1_Missense_Mutation_p.A450S	p.A441S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			10	1447	-			450					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.1321G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.483065	0.84747	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.36699	2.24;1.99;1.25;1.24;2.24	5.63	5.63	0.86233	.	0.100620	0.64402	D	0.000002	T	0.64594	0.2612	M	0.79475	2.455	0.49389	D	0.999783	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.87578	0.989;0.939;0.975;0.998	T	0.66316	-0.5954	10	0.72032	D	0.01	-14.1441	20.0431	0.97598	0.0:1.0:0.0:0.0	.	441;264;439;450	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	S	447;441;406;332;264;450	ENSP00000379568:A441S;ENSP00000365070:A406S;ENSP00000365066:A332S;ENSP00000365062:A264S;ENSP00000365049:A450S	ENSP00000365049:A450S	A	-	1	0	ACBD5	27537264	1.000000	0.71417	0.660000	0.29694	0.629000	0.37895	5.200000	0.65158	2.803000	0.96430	0.585000	0.79938	GCC		0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		129	190	1	0	4.22663e-88	0.870114	5.06152e-88	129	190				
MAP1S	55201	broad.mit.edu	37	19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687																																						ENST00000324096.4																			1	Substitution - Missense(1)	p.L227Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(679-681)cTg>cAg		microtubule-associated protein 1S							22.0	24.0	23.0					19																	17836873		2202	4298	6500	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836873T>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.680T>A	19.37:g.17836873T>A	ENSP00000325313:p.Leu227Gln					MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q	p.L227Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	831	+			227			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.680T>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183598	0.57800	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.39229	1.09;1.09	4.39	4.39	0.52855	.	0.000000	0.37348	N	0.002122	T	0.64349	0.2590	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69316	-0.5177	10	0.87932	D	0	-24.4457	11.5458	0.50693	0.0:0.0:0.0:1.0	.	201;227;227	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	Q	227;201	ENSP00000325313:L227Q;ENSP00000439243:L201Q	ENSP00000325313:L227Q	L	+	2	0	MAP1S	17697873	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	7.864000	0.87037	1.610000	0.50200	0.459000	0.35465	CTG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		32	25	0	0	0	0.834066	0	32	25				
NEFM	4741	broad.mit.edu	37	8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438																																						ENST00000221166.5																			1	Substitution - Missense(1)	p.D867V(1)	prostate(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2599-2601)gAt>gTt		neurofilament, medium polypeptide							69.0	72.0	71.0					8																	24775968		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775968A>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2600A>T	8.37:g.24775968A>T	ENSP00000221166:p.Asp867Val					NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V	p.D867V			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	3382	+		Prostate(55;0.157)	867			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2600A>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255312	0.59321	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.98732	-3.91;-3.46;-3.69;-5.1	4.63	4.63	0.57726	.	0.000000	0.46442	D	0.000298	D	0.98504	0.9501	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.969;0.998	P;P	0.59115	0.585;0.852	D	0.99282	1.0896	10	0.87932	D	0	.	14.0407	0.64674	1.0:0.0:0.0:0.0	.	649;867	E7EMV2;P07197	.;NFM_HUMAN	V	867;649;828;491	ENSP00000221166:D867V;ENSP00000427872:D649V;ENSP00000410137:D828V;ENSP00000412295:D491V	ENSP00000221166:D867V	D	+	2	0	NEFM	24831873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.977000	0.76141	1.717000	0.51406	0.383000	0.25322	GAT		0.438	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		55	14	0	0	0	0.870114	0	55	14				
ZNF517	340385	broad.mit.edu	37	8	146033227	146033227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:146033227G>A	ENST00000531720.1	+	4	971	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.R309H|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R309H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGCACGGCCGCATCCACAGC	0.682																																						ENST00000359971.3																			1	Substitution - Missense(1)	p.R309H(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(925-927)cGc>cAc		zinc finger protein 517							15.0	17.0	16.0					8																	146033227		2170	4220	6390	SO:0001583	missense	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033227G>A	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.926G>A	8.37:g.146033227G>A	ENSP00000436103:p.Arg309His					ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.R309H	p.R309H	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1033	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		309						Missense_Mutation	SNP	ENST00000531720.1	37	c.926G>A	CCDS6434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.797693|2.797693	0.50208|0.50208	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000529429|ENST00000359971;ENST00000531720	.|T;T	.|0.63417	.|-0.04;-0.04	2.83|2.83	0.892|0.892	0.19230|0.19230	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.56834|0.56834	0.2012|0.2012	M|M	0.87328|0.87328	2.875|2.875	0.09310|0.09310	N|N	1|1	.|P	.|0.41710	.|0.76	.|B	.|0.27715	.|0.082	T|T	0.54043|0.54043	-0.8352|-0.8352	5|9	.|0.87932	.|D	.|0	.|.	6.3615|6.3615	0.21431|0.21431	0.3607:0.0:0.6393:0.0|0.3607:0.0:0.6393:0.0	.|.	.|309	.|Q6ZMY9	.|ZN517_HUMAN	T|H	276|309	.|ENSP00000353058:R309H;ENSP00000436103:R309H	.|ENSP00000353058:R309H	A|R	+|+	1|2	0|0	ZNF517|ZNF517	146004031|146004031	0.000000|0.000000	0.05858|0.05858	0.080000|0.080000	0.20451|0.20451	0.811000|0.811000	0.45836|0.45836	0.496000|0.496000	0.22499|0.22499	0.067000|0.067000	0.16545|0.16545	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.682	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		3	34	0	0	0	0.115264	0	3	34				
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588|rs121913416|rs121913417		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)Gac>Cac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>C	3.37:g.41266097G>C	ENSP00000344456:p.Asp32His					CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H	p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	374	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566795	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74003	-0.3804	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	.	32	P35222	CTNB1_HUMAN	H	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25H;ENSP00000385604:D32H;ENSP00000412219:D32H;ENSP00000379486:D32H;ENSP00000344456:D32H;ENSP00000411226:D25H;ENSP00000379488:D32H;ENSP00000409302:D32H;ENSP00000401599:D32H	ENSP00000344456:D32H	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		19	31	0	0	0	0.575678	0	19	31				
LRRC37B	114659	broad.mit.edu	37	17	30349140	30349140	+	Silent	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000341671.7	+	1	980	c.975A>C	c.(973-975)acA>acC	p.T325T	LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000327564.7_Silent_p.T352T|LRRC37B_ENST00000394713.3_Silent_p.T325T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483																																						ENST00000327564.7																			1	Substitution - coding silent(1)	p.T325T(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1054-1056)acA>acC		leucine rich repeat containing 37B							82.0	89.0	87.0					17																	30349140		2203	4300	6503	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349140A>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.975A>C	17.37:g.30349140A>C						LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000341671.7_Silent_p.T325T	p.T352T			Q96QE4	LR37B_HUMAN			1	1117	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	325					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1056A>C	CCDS32609.1																																																																																				0.483	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		70	105	0	0	0	0.870114	0	70	105				
GPR123	84435	broad.mit.edu	37	10	134942935	134942935	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000392607.3	+	7	2039	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L	GPR123_ENST00000607359.1_Silent_p.L1254L|GPR123_ENST00000392606.2_Silent_p.L438L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632																																						ENST00000607359.1																			2	Substitution - coding silent(2)	p.L1254L(1)|p.L535L(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3760-3762)Ttg>Ctg		G protein-coupled receptor 123							20.0	19.0	20.0					10																	134942935		2197	4292	6489	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942935T>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1603T>C	10.37:g.134942935T>C						GPR123_ENST00000392606.2_Silent_p.L438L|GPR123_ENST00000392607.3_Silent_p.L535L	p.L1254L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3760	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	535					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.3760T>C	CCDS41580.1																																																																																				0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			16	18	0	0	0	0.479597	0	16	18				
NAAA	27163	broad.mit.edu	37	4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000505594.1_5'Flank|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706																																						ENST00000286733.4																			1	Substitution - Missense(1)	p.A63P(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(187-189)Gcg>Ccg		N-acylethanolamine acid amidase							12.0	14.0	14.0					4																	76861916		1895	4045	5940	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861916C>G	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.187G>C	4.37:g.76861916C>G	ENSP00000286733:p.Ala63Pro					NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	288	-			63					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.187G>C	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961617	0.34659	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000399490;ENST00000507187	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	3.73	1.97	0.26223	.	0.433096	0.24620	N	0.036968	T	0.37489	0.1005	M	0.70275	2.135	0.09310	N	1	P;B	0.46064	0.872;0.154	B;B	0.38458	0.274;0.054	T	0.23940	-1.0174	10	0.25106	T	0.35	-7.5181	4.414	0.11447	0.2221:0.6583:0.0:0.1196	.	63;63	D6R9S9;Q02083	.;NAAA_HUMAN	P	63	ENSP00000382420:A63P;ENSP00000286733:A63P;ENSP00000427641:A63P;ENSP00000423142:A63P	ENSP00000286733:A63P	A	-	1	0	NAAA	77080940	0.015000	0.18098	0.003000	0.11579	0.018000	0.09664	0.389000	0.20751	0.369000	0.24510	0.460000	0.39030	GCG		0.706	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			14	53	0	0	0	0.479597	0	14	53				
UNC79	57578	broad.mit.edu	37	14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:94004551G>T	ENST00000393151.2	+	12	1339	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E447*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	447					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E447*(1)|p.E270*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGCCGTGGAAGCCGTGAT	0.557																																						ENST00000553484.1																			2	Substitution - Nonsense(2)	p.E447*(1)|p.E270*(1)	prostate(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1339-1341)Gaa>Taa		unc-79 homolog (C. elegans)							35.0	33.0	33.0					14																	94004551		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94004551G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1339G>T	14.37:g.94004551G>T	ENSP00000376858:p.Glu447*					UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*	p.E447*			Q9P2D8	UNC79_HUMAN			12	1493	+			447					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.1339G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.058903	0.98032	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1112	14.2719	0.66157	0.072:0.0:0.928:0.0	.	.	.	.	X	270;447;447;447;447	.	ENSP00000256339:E270X	E	+	1	0	KIAA1409	93074304	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.537000	0.98070	1.389000	0.46526	0.561000	0.74099	GAA		0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		16	15	1	0	1.67942e-08	0.539581	1.79015e-08	16	15				
IRGQ	126298	broad.mit.edu	37	19	44099377	44099377	+	Silent	SNP	G	G	A	rs376357590		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:44099377G>A	ENST00000602269.1	-	1	299	c.114C>T	c.(112-114)ccC>ccT	p.P38P	ZNF576_ENST00000336564.4_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.P38P|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	38								p.P38P(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCCCTCGGGGGCCTCGA	0.711																																						ENST00000422989.1																			1	Substitution - coding silent(1)	p.P38P(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(112-114)ccC>ccT		immunity-related GTPase family, Q							14.0	16.0	15.0					19																	44099377		2156	4201	6357	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44099377G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.114C>T	19.37:g.44099377G>A						IRGQ_ENST00000602269.1_Silent_p.P38P	p.P38P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			2	269	-		Prostate(69;0.0199)	38					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.114C>T	CCDS33040.1																																																																																				0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		23	48	0	0	0	0.608945	0	23	48				
KHDRBS3	10656	broad.mit.edu	37	8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368																																						ENST00000355849.5																			1	Substitution - Missense(1)	p.K85N(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(253-255)aaG>aaT		KH domain containing, RNA binding, signal transduction associated 3							123.0	128.0	127.0					8																	136554944		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554944G>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.255G>T	8.37:g.136554944G>T	ENSP00000348108:p.Lys85Asn					KHDRBS3_ENST00000520981.1_Intron	p.K85N	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	665	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		85			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.255G>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592636	0.66219	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.53423	0.62;0.62;0.62	5.82	4.02	0.46733	K Homology (1);	0.043909	0.85682	D	0.000000	T	0.70885	0.3275	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.73500	-0.3963	10	0.87932	D	0	-19.966	8.9257	0.35639	0.2256:0.0:0.7744:0.0	.	85;85	O75525-2;O75525	.;KHDR3_HUMAN	N	85;57;58	ENSP00000348108:K85N;ENSP00000431022:K57N;ENSP00000430284:K58N	ENSP00000348108:K85N	K	+	3	2	KHDRBS3	136624126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	0.801000	0.34066	0.655000	0.94253	AAG		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			87	366	1	0	2.32385e-29	0.870114	2.59096e-29	87	366				
CELSR3	1951	broad.mit.edu	37	3	48677786	48677786	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:48677786G>A	ENST00000164024.4	-	34	9512	c.9232C>T	c.(9232-9234)Cgg>Tgg	p.R3078W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3083W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3078					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R3078W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGTTGCCGCCGGAGGAGC	0.647																																						ENST00000544264.1																			1	Substitution - Missense(1)	p.R3078W(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9247-9249)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							48.0	54.0	52.0					3																	48677786		2203	4294	6497	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677786G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9232C>T	3.37:g.48677786G>A	ENSP00000164024:p.Arg3078Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078W	p.R3083W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9527	-			3078					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9247C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993400	0.54041	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.74209	-0.82;-0.82	4.86	3.94	0.45596	.	.	.	.	.	T	0.77205	0.4096	L	0.29908	0.895	0.45914	D	0.998755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.936;0.965	T	0.78964	-0.1996	9	0.66056	D	0.02	.	12.1918	0.54275	0.0:0.0:0.6116:0.3884	.	3083;3078;3176	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3078;3083	ENSP00000164024:R3078W;ENSP00000445694:R3083W	ENSP00000164024:R3078W	R	-	1	2	CELSR3	48652790	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.225000	0.32551	2.250000	0.74265	0.484000	0.47621	CGG		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		51	81	0	0	0	0.870114	0	51	81				
ACVRL1	94	broad.mit.edu	37	12	52310003	52310003	+	Missense_Mutation	SNP	G	G	A	rs121909284		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:52310003G>A	ENST00000388922.4	+	8	1515	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R425Q|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in HHT2). {ECO:0000269|PubMed:15024723}.|R -> Q (in HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936398). {ECO:0000269|PubMed:14684682, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:8640225}.|R -> W (in HHT2). {ECO:0000269|PubMed:11484689, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:15712270}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.R411Q(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATTGCCCGCCGGACCATCGTG	0.627																																						ENST00000550683.1																			3	Substitution - Missense(3)	p.R411Q(3)	prostate(2)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20	GRCh37	CM040665|CM960013	ACVRL1	M	rs121909284	c.(1273-1275)cGg>cAg		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						62.0	56.0	58.0					12																	52310003		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52310003G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1232G>A	12.37:g.52310003G>A	ENSP00000373574:p.Arg411Gln					ACVRL1_ENST00000388922.4_Missense_Mutation_p.R411Q|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q	p.R425Q	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	7	1375	+			411		F -> L (in HHT2).|F -> V (in HHT2).|Missing (in HHT2).	Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1274G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165216	0.94768	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93763	-3.28;-3.28;-3.28	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40818	N	0.001013	D	0.97068	0.9042	M	0.86502	2.82	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.97606	1.0126	9	0.87932	D	0	.	18.144	0.89649	0.0:0.0:1.0:0.0	rs28936398	237;411	E7EN07;P37023	.;ACVL1_HUMAN	Q	411;411;425;237;237	ENSP00000373574:R411Q;ENSP00000447884:R425Q;ENSP00000392492:R237Q	ENSP00000267008:R411Q	R	+	2	0	ACVRL1	50596270	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.648000	0.98483	2.695000	0.91970	0.462000	0.41574	CGG		0.627	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			26	37	0	0	0	0.706142	0	26	37				
MYO5C	55930	broad.mit.edu	37	15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MYO5C_ENST00000443683.2_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468																																						ENST00000261839.7																			1	Substitution - Missense(1)	p.V52L(1)	prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(154-156)Gtc>Ctc		myosin VC							40.0	39.0	39.0					15																	52571856		1849	4102	5951	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52571856C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.154G>C	15.37:g.52571856C>G	ENSP00000261839:p.Val52Leu					MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	p.V52L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	3	315	-			52			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.154G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139308	0.09083	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95001	-3.58	5.88	-11.8	0.00035	.	1.030760	0.07670	N	0.935351	D	0.83408	0.5248	N	0.11673	0.155	0.28429	N	0.917331	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.66472	-0.5915	10	0.13470	T	0.59	.	13.6714	0.62427	0.0796:0.6862:0.1587:0.0756	.	15;52	F5H231;Q9NQX4	.;MYO5C_HUMAN	L	52;15	ENSP00000261839:V52L	ENSP00000261839:V52L	V	-	1	0	MYO5C	50359148	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.184000	0.01254	-2.631000	0.00434	0.557000	0.71058	GTC		0.468	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		29	30	0	0	0	0.706142	0	29	30				
MYH7B	57644	broad.mit.edu	37	20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V466L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCAGGTGGTGTTTGCTGT	0.662																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.V466L(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1396-1398)Gtg>Ttg		myosin, heavy chain 7B, cardiac muscle, beta							57.0	65.0	63.0					20																	33575571		2041	4215	6256	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575571G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1396G>T	20.37:g.33575571G>T	ENSP00000262873:p.Val466Leu						p.V466L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1488	+			424			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1396G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932106	0.18131	.	.	ENSG00000078814	ENST00000262873	D	0.86956	-2.19	3.53	3.53	0.40419	Myosin head, motor domain (2);	0.000000	0.32624	N	0.005849	T	0.75968	0.3922	N	0.17379	0.485	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.69691	-0.5077	10	0.17369	T	0.5	.	13.7951	0.63166	0.0:0.1546:0.8454:0.0	.	424	A7E2Y1	MYH7B_HUMAN	L	466	ENSP00000262873:V466L	ENSP00000262873:V466L	V	+	1	0	MYH7B	33039232	0.967000	0.33354	1.000000	0.80357	0.934000	0.57294	1.492000	0.35594	2.279000	0.76181	0.561000	0.74099	GTG		0.662	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	171	1	0	0.000673444	0.361761	0.000694937	6	171				
THSD4	79875	broad.mit.edu	37	15	72039268	72039268	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:72039268C>A	ENST00000355327.3	+	13	2262	c.2128C>A	c.(2128-2130)Cgc>Agc	p.R710S	THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R710S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACGCCAACCGCAGCCTGAC	0.637																																						ENST00000355327.3																			1	Substitution - Missense(1)	p.R710S(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2128-2130)Cgc>Agc		thrombospondin, type I, domain containing 4							37.0	46.0	43.0					15																	72039268		2178	4282	6460	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039268C>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2128C>A	15.37:g.72039268C>A	ENSP00000347484:p.Arg710Ser					THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S	p.R710S			Q6ZMP0	THSD4_HUMAN			13	2262	+			710			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2128C>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118321	0.56505	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62498	0.02;0.02;0.31	5.08	4.13	0.48395	.	.	.	.	.	T	0.43122	0.1233	N	0.12471	0.22	0.48696	D	0.999693	B;P	0.45715	0.392;0.865	B;B	0.43783	0.093;0.431	T	0.28650	-1.0037	9	0.09590	T	0.72	.	12.7162	0.57117	0.1646:0.8354:0.0:0.0	.	350;710	B4DR13;Q6ZMP0	.;THSD4_HUMAN	S	710;710;350	ENSP00000347484:R710S;ENSP00000261862:R710S;ENSP00000350413:R350S	ENSP00000261862:R710S	R	+	1	0	THSD4	69826322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.723000	0.68492	2.347000	0.79759	0.650000	0.86243	CGC		0.637	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		3	45	1	0	0.115264	0.115264	0.117691	3	45				
FGFR1OP2	26127	broad.mit.edu	37	12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84					wound healing (GO:0042060)	cytosol (GO:0005829)		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388																																						ENST00000229395.3																			1	Substitution - Missense(1)	p.K84R(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(250-252)aAa>aGa		FGFR1 oncogene partner 2							87.0	79.0	82.0					12																	27109591		2203	4300	6503	SO:0001583	missense	26127					cytoplasm		g.chr12:27109591A>G	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.251A>G	12.37:g.27109591A>G	ENSP00000229395:p.Lys84Arg					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			3	593	+	Colorectal(261;0.0847)		84					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	c.251A>G	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718837	0.30503	.	.	ENSG00000111790	ENST00000229395;ENST00000546072;ENST00000327214	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.26042	0.785	0.58432	D	0.999996	B;B;B	0.19073	0.033;0.0;0.001	B;B;B	0.17433	0.018;0.011;0.003	T	0.29181	-1.0020	9	0.16420	T	0.52	-12.5033	14.4637	0.67470	1.0:0.0:0.0:0.0	.	84;84;84	Q9NVK5-2;Q9NVK5;Q9NVK5-3	.;FGOP2_HUMAN;.	R	84	.	ENSP00000229395:K84R	K	+	2	0	FGFR1OP2	27000858	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.556000	0.90697	1.961000	0.56991	0.482000	0.46254	AAA		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		35	67	0	0	0	0.804634	0	35	67				
LILRA4	23547	broad.mit.edu	37	19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622																																						ENST00000291759.4																			1	Substitution - Missense(1)	p.A390V(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1168-1170)gCg>gTg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							153.0	133.0	140.0					19																	54848198		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848198G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1169C>T	19.37:g.54848198G>A	ENSP00000291759:p.Ala390Val					AC008984.2_ENST00000507363.1_RNA	p.A390V	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1225	-	Ovarian(34;0.19)		390			Ig-like C2-type 4.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1169C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880321	0.17467	.	.	ENSG00000239961	ENST00000291759	T	0.03242	4.0	2.51	-3.26	0.05064	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818908	0.10130	N	0.712145	T	0.05135	0.0137	M	0.79343	2.45	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.36432	-0.9748	10	0.48119	T	0.1	.	4.1218	0.10109	0.0:0.3231:0.4021:0.2748	.	390	P59901	LIRA4_HUMAN	V	390	ENSP00000291759:A390V	ENSP00000291759:A390V	A	-	2	0	LILRA4	59540010	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.992000	0.03724	-0.551000	0.06175	-0.519000	0.04390	GCG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		86	130	0	0	0	0.870114	0	86	130				
IWS1	55677	broad.mit.edu	37	2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493																																						ENST00000295321.4																			1	Substitution - Missense(1)	p.P206L(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(616-618)cCt>cTt		IWS1 homolog (S. cerevisiae)							142.0	146.0	145.0					2																	128262862		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262862G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.617C>T	2.37:g.128262862G>A	ENSP00000295321:p.Pro206Leu					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L	p.P206L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	876	-	Colorectal(110;0.1)		206			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.617C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963158	0.18583	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.32988	1.43;1.46	5.79	2.26	0.28386	.	0.569651	0.17830	N	0.160577	T	0.17831	0.0428	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.09400	-1.0676	10	0.40728	T	0.16	-5.8546	3.3095	0.07011	0.0834:0.317:0.367:0.2326	.	206	Q96ST2	IWS1_HUMAN	L	206;159;213;211	ENSP00000295321:P206L;ENSP00000399245:P213L	ENSP00000295321:P206L	P	-	2	0	IWS1	127979332	0.005000	0.15991	0.418000	0.26571	0.893000	0.52053	0.597000	0.24059	1.419000	0.47118	0.591000	0.81541	CCT		0.493	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		101	250	0	0	0	0.870114	0	101	250				
GLI1	2735	broad.mit.edu	37	12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			1	Substitution - Missense(1)	p.E736V(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2206-2208)gAa>gTa		GLI family zinc finger 1							83.0	90.0	88.0					12																	57864730		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864730A>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2207A>T	12.37:g.57864730A>T	ENSP00000228682:p.Glu736Val					GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	p.E736V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2298	+			736					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2207A>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194258	0.38806	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.66;2.55;2.63;2.63	4.62	3.43	0.39272	.	0.320957	0.22605	N	0.057906	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	0.999997	B	0.27625	0.183	B	0.22386	0.039	T	0.31251	-0.9950	10	0.27785	T	0.31	.	5.5923	0.17307	0.7352:0.1756:0.0893:0.0	.	736	P08151	GLI1_HUMAN	V	608;736;695;695	ENSP00000437607:E608V;ENSP00000228682:E736V;ENSP00000441006:E695V;ENSP00000434408:E695V	ENSP00000228682:E736V	E	+	2	0	GLI1	56150997	0.000000	0.05858	0.040000	0.18447	0.931000	0.56810	0.055000	0.14229	0.876000	0.35872	0.397000	0.26171	GAA		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		69	129	0	0	0	0.870114	0	69	129				
MTTP	4547	broad.mit.edu	37	4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000265517.5	+	15	2403	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000457717.1_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACTTATTCTGCTAATAGATCA	0.408																																						ENST00000457717.1																			1	Substitution - Missense(1)	p.L734I(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2200-2202)Cta>Ata		microsomal triglyceride transfer protein	Hesperetin(DB01094)						109.0	100.0	103.0					4																	100534280		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534280C>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2200C>A	4.37:g.100534280C>A	ENSP00000265517:p.Leu734Ile					MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I|RP11-766F14.1_ENST00000508578.1_RNA	p.L734I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2456	+			734					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2200C>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764096	0.69878	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70164	-0.46;-0.44;-0.44	5.49	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.68952	2.095	0.45914	D	0.998757	B;D	0.62365	0.047;0.991	B;P	0.58928	0.052;0.848	T	0.66352	-0.5945	10	0.39692	T	0.17	-23.35	7.1113	0.25392	0.1217:0.6796:0.0:0.1986	.	761;734	E9PBP6;P55157	.;MTP_HUMAN	I	761;734;734	ENSP00000427679:L761I;ENSP00000400821:L734I;ENSP00000265517:L734I	ENSP00000265517:L734I	L	+	1	2	MTTP	100753303	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	1.485000	0.35519	0.020000	0.15106	-0.238000	0.12139	CTA		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			39	34	1	0	9.45814e-24	0.804634	1.04255e-23	39	34				
CXCR2P1	3580	broad.mit.edu	37	2	218925510	218925510	+	RNA	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:218925510G>A	ENST00000439871.1	-	0	870					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		GGCAGGATCCGTAACAGCATC	0.522																																						ENST00000439871.1																			0																																																			0							g.chr2:218925510G>A	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925510G>A								NR_002712.1						0	870	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.522	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		71	44	0	0	0	0.870114	0	71	44				
ARID4B	51742	broad.mit.edu	37	1	235490233	235490233	+	Start_Codon_SNP	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:235490233A>C	ENST00000264183.3	-	2	499	c.2T>G	c.(1-3)aTg>aGg	p.M1R	GGPS1_ENST00000358966.2_5'Flank|GGPS1_ENST00000282841.5_5'Flank|GGPS1_ENST00000488594.1_5'Flank|GGPS1_ENST00000391855.2_5'Flank|GGPS1_ENST00000476121.1_5'Flank|ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCT	0.522																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.M1R(1)	prostate(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1-3)aTg>aGg		AT rich interactive domain 4B (RBP1-like)							147.0	144.0	145.0					1																	235490233		2203	4300	6503	SO:0001582	initiator_codon_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235490233A>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2T>G	1.37:g.235490233A>C	ENSP00000264183:p.Met1Arg					ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R	p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		2	499	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Translation_Start_Site	SNP	ENST00000264183.3	37	c.2T>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305542	0.40795	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.31247	1.65;1.5;1.5;1.76	4.44	4.44	0.53790	.	1.405150	0.04988	U	0.466797	T	0.29652	0.0740	.	.	.	0.80722	D	1	B;B;B;B	0.32620	0.027;0.255;0.378;0.261	B;B;B;B	0.29353	0.005;0.101;0.101;0.047	T	0.08391	-1.0724	9	0.87932	D	0	.	10.0873	0.42425	1.0:0.0:0.0:0.0	.	1;1;1;1	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	R	1	ENSP00000264184:M1R;ENSP00000355562:M1R;ENSP00000264183:M1R;ENSP00000391497:M1R	ENSP00000264183:M1R	M	-	2	0	ARID4B	233556856	1.000000	0.71417	0.988000	0.46212	0.541000	0.35023	4.160000	0.58164	1.629000	0.50426	0.533000	0.62120	ATG		0.522	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Missense_Mutation	136	28	0	0	0	0.870114	0	136	28				
DCBLD1	285761	broad.mit.edu	37	6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428																																						ENST00000338728.5																			1	Substitution - Missense(1)	p.S55C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(163-165)tCt>tGt		discoidin, CUB and LCCL domain containing 1							139.0	132.0	135.0					6																	117824981		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117824981C>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.164C>G	6.37:g.117824981C>G	ENSP00000342422:p.Ser55Cys					DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C	p.S55C			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	2	284	+		all_cancers(87;0.171)	55			CUB.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.164C>G		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878412	0.72294	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	T;T;T	0.32272	1.46;1.46;1.46	5.09	5.09	0.68999	CUB (5);	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	H	0.98426	4.23	0.41855	D	0.990196	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82313	-0.0519	10	0.87932	D	0	-11.7914	19.0393	0.92992	0.0:1.0:0.0:0.0	.	55;55	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	C	55	ENSP00000296955:S55C;ENSP00000357489:S55C;ENSP00000342422:S55C	ENSP00000296955:S55C	S	+	2	0	DCBLD1	117931674	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.744000	0.68664	2.807000	0.96579	0.557000	0.71058	TCT		0.428	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		65	99	0	0	0	0.870114	0	65	99				
CEP83	51134	broad.mit.edu	37	12	94763729	94763729	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		331					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333																																						ENST00000397809.5																			1	Substitution - coding silent(1)	p.R339R(1)	prostate(1)	breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1015-1017)agA>agG		coiled-coil domain containing 41							254.0	248.0	250.0					12																	94763729		1927	4154	6081	SO:0001819	synonymous_variant	51134							g.chr12:94763729T>C																												ENST00000397809.5:c.1017A>G	12.37:g.94763729T>C						CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000547575.1_Silent_p.R339R	p.R339R	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			9	1566	-			331					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.1017A>G	CCDS41820.1																																																																																				0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	411	0	0	0	0.184627	0	5	411				
ANK2	287	broad.mit.edu	37	4	114186063	114186063	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:114186063C>T	ENST00000357077.4	+	14	1450	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	ANK2_ENST00000506722.1_Missense_Mutation_p.T445M|ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	466					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T466M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTGGTGAGACGGCACTACAC	0.517																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.T466M(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1396-1398)aCg>aTg		ankyrin 2, neuronal							65.0	54.0	57.0					4																	114186063		2196	4288	6484	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114186063C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1397C>T	4.37:g.114186063C>T	ENSP00000349588:p.Thr466Met					ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M|ANK2_ENST00000506722.1_Missense_Mutation_p.T445M	p.T466M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	14	1450	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	466					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1397C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080018	0.94050	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000028	T	0.68210	0.2976	M	0.94063	3.49	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	0.91635	0.999;0.984;0.996;0.992;0.97	T	0.77056	-0.2729	10	0.87932	D	0	.	19.5344	0.95244	0.0:1.0:0.0:0.0	.	466;466;466;445;445	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	M	445;445;445;481;466;466;466;445	ENSP00000423799:T445M;ENSP00000421011:T445M;ENSP00000421067:T445M;ENSP00000424722:T481M;ENSP00000378044:T466M;ENSP00000349588:T466M;ENSP00000264366:T466M	ENSP00000264366:T466M	T	+	2	0	ANK2	114405512	1.000000	0.71417	0.959000	0.39883	0.980000	0.70556	6.011000	0.70760	2.618000	0.88619	0.585000	0.79938	ACG		0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		3	5	0	0	0	0.115264	0	3	5				
PIWIL1	9271	broad.mit.edu	37	12	130839528	130839528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:130839528C>T	ENST00000245255.3	+	11	1539	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	423					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R423*(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGAAGTGGGACGACTCATTGA	0.383																																						ENST00000245255.3																			2	Substitution - Nonsense(2)	p.R423*(2)	large_intestine(1)|prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1267-1269)Cga>Tga		piwi-like RNA-mediated gene silencing 1							203.0	191.0	195.0					12																	130839528		2203	4300	6503	SO:0001587	stop_gained	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130839528C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1267C>T	12.37:g.130839528C>T	ENSP00000245255:p.Arg423*						p.R423*	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	11	1539	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		423					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	c.1267C>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	36	5.971572	0.97162	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.38	1.83	0.25207	.	0.140427	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8838	13.114	0.59289	0.4705:0.5295:0.0:0.0	.	.	.	.	X	423	.	ENSP00000245255:R423X	R	+	1	2	PIWIL1	129405481	0.402000	0.25311	0.037000	0.18230	0.353000	0.29299	1.645000	0.37238	0.076000	0.16826	-0.375000	0.07067	CGA		0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			114	180	0	0	0	0.870114	0	114	180				
ENPP1	5167	broad.mit.edu	37	6	132195477	132195477	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			1	Substitution - coding silent(1)	p.Q493Q(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.e16+1		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						82.0	89.0	87.0					6																	132195477		2203	4280	6483	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195477A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1635+1A>G	6.37:g.132195477A>G							p.Q545_splice	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1655	+	Breast(56;0.0505)		545			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.1635_splice	CCDS5150.2																																																																																				0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Silent	10	252	0	0	0	0.361761	0	10	252				
ACKR3	57007	broad.mit.edu	37	2	237489879	237489879	+	Silent	SNP	C	C	T	rs572775769		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:237489879C>T	ENST00000272928.3	+	2	1081	c.771C>T	c.(769-771)taC>taT	p.Y257Y		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	257					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.Y257Y(1)									TCTTCTCCTACGTGGTGGTCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		22608	0.0		0.0	False		,,,				2504	0.001					ENST00000272928.3																			1	Substitution - coding silent(1)	p.Y257Y(1)	prostate(1)								c.(769-771)taC>taT		atypical chemokine receptor 3							141.0	118.0	126.0					2																	237489879		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489879C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.771C>T	2.37:g.237489879C>T							p.Y257Y	NM_020311.2	NP_064707.1					2	1081	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.771C>T	CCDS2516.1																																																																																				0.582	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		164	133	0	0	0	0.870114	0	164	133				
CYP7B1	9420	broad.mit.edu	37	8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383																																						ENST00000310193.3																			1	Substitution - Missense(1)	p.R68M(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(202-204)aGg>aTg		cytochrome P450, family 7, subfamily B, polypeptide 1							144.0	140.0	141.0					8																	65537016		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65537016C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.203G>T	8.37:g.65537016C>A	ENSP00000310721:p.Arg68Met						p.R68M	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			2	376	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	68					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.203G>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758294	0.31137	.	.	ENSG00000172817	ENST00000310193	T	0.68903	-0.36	5.52	-0.308	0.12773	.	1.181470	0.05699	N	0.593732	T	0.50069	0.1594	N	0.19112	0.55	0.09310	N	1	P	0.51351	0.944	B	0.42245	0.381	T	0.46456	-0.9190	10	0.59425	D	0.04	-22.326	5.4839	0.16739	0.0:0.3036:0.3124:0.3841	.	68	O75881	CP7B1_HUMAN	M	68	ENSP00000310721:R68M	ENSP00000310721:R68M	R	-	2	0	CYP7B1	65699570	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.210000	0.32370	0.015000	0.14971	-0.469000	0.05056	AGG		0.383	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			84	383	1	0	4.92795e-40	0.870114	5.62366e-40	84	383				
GTF2H1	2965	broad.mit.edu	37	11	18362866	18362866	+	Silent	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363								Nucleotide excision repair (NER)																														ENST00000265963.4																			2	Substitution - coding silent(2)	p.T222T(2)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(664-666)acA>acG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							98.0	94.0	96.0					11																	18362866		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18362866A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.666A>G	11.37:g.18362866A>G						GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	p.T222T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			6	826	+			222			BSD 2.		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.666A>G	CCDS7838.1																																																																																				0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		53	99	0	0	0	0.870114	0	53	99				
TRPM1	4308	broad.mit.edu	37	15	31294406	31294406	+	Silent	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000256552.6	-	28	4644	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	TRPM1_ENST00000397795.2_Silent_p.I1477I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.I1516I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478																																						ENST00000542188.1																			1	Substitution - coding silent(1)	p.I1477I(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4546-4548)atC>atT		transient receptor potential cation channel, subfamily M, member 1							225.0	207.0	213.0					15																	31294406		2020	4182	6202	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294406G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4497C>T	15.37:g.31294406G>A						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I1499I|TRPM1_ENST00000397795.2_Silent_p.I1477I	p.I1516I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4861	-		all_lung(180;1.92e-11)	1477						Silent	SNP	ENST00000256552.6	37	c.4548C>T	CCDS58346.1																																																																																				0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	452	0	0	0	0.457914	0	12	452				
PGLYRP3	114771	broad.mit.edu	37	1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473																																						ENST00000290722.1																			1	Substitution - Missense(1)	p.C238F(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(712-714)tGt>tTt		peptidoglycan recognition protein 3							246.0	228.0	234.0					1																	153274900		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274900C>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.713G>T	1.37:g.153274900C>A	ENSP00000290722:p.Cys238Phe						p.C238F	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	765	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		238					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.713G>T	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842334	0.51057	.	.	ENSG00000159527	ENST00000290722	T	0.13657	2.57	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.64402	D	0.000004	T	0.22003	0.0530	M	0.80982	2.52	0.47245	D	0.999369	D	0.89917	1.0	D	0.87578	0.998	T	0.20009	-1.0288	10	0.09843	T	0.71	-38.6811	12.1343	0.53961	0.0:1.0:0.0:0.0	.	238	Q96LB9	PGRP3_HUMAN	F	238	ENSP00000290722:C238F	ENSP00000290722:C238F	C	-	2	0	PGLYRP3	151541524	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	3.407000	0.52644	2.230000	0.72887	0.655000	0.94253	TGT		0.473	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		104	469	1	0	5.77035e-48	0.870114	6.66338e-48	104	469				
CHAT	1103	broad.mit.edu	37	10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000337653.2	+	8	1391	c.1238A>T	c.(1237-1239)tAc>tTc	p.Y413F	CHAT_ENST00000395562.2_Missense_Mutation_p.Y331F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCGGAGGCTACAGCAAGAAC	0.632																																						ENST00000395562.2																			1	Substitution - Missense(1)	p.Y413F(1)	prostate(1)	central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(991-993)tAc>tTc		choline O-acetyltransferase	Choline(DB00122)						80.0	69.0	73.0					10																	50854677		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854677A>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1238A>T	10.37:g.50854677A>T	ENSP00000337103:p.Tyr413Phe					CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	p.Y331F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1461	+		all_neural(218;0.107)	413					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.992A>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	7.597	0.671903	0.14776	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.46	2.05	0.26809	.	0.573344	0.19883	N	0.103903	T	0.64461	0.2600	L	0.36672	1.1	0.22656	N	0.998889	B;B	0.21225	0.005;0.053	B;B	0.26094	0.004;0.066	T	0.41556	-0.9502	10	0.10636	T	0.68	-7.835	2.6123	0.04894	0.4415:0.0:0.3441:0.2144	.	295;413	F8W8I2;P28329	.;CLAT_HUMAN	F	295;295;295;413;331;295	ENSP00000343486:Y295F;ENSP00000345878:Y295F;ENSP00000378926:Y295F;ENSP00000337103:Y413F;ENSP00000378929:Y331F;ENSP00000390521:Y295F	ENSP00000337103:Y413F	Y	+	2	0	CHAT	50524683	0.911000	0.30947	1.000000	0.80357	0.588000	0.36517	0.780000	0.26760	0.675000	0.31264	-0.177000	0.13119	TAC		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		33	48	0	0	0	0.779181	0	33	48				
CCNE2	9134	broad.mit.edu	37	8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P|CCNE2_ENST00000523476.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383																																						ENST00000520509.1																			1	Substitution - Missense(1)	p.H303P(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(907-909)cAt>cCt		cyclin E2							151.0	145.0	147.0					8																	95895044		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95895044T>G	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.908A>C	8.37:g.95895044T>G	ENSP00000429089:p.His303Pro					CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P	p.H303P			O96020	CCNE2_HUMAN			10	1160	-	Breast(36;8.75e-07)		303					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.908A>C	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749002	0.89753	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.36520	1.25;1.25;1.25	6.17	6.17	0.99709	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.987	T	0.67146	-0.5744	10	0.36615	T	0.2	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	303;303	Q8WUE3;O96020	.;CCNE2_HUMAN	P	303;303;195;303	ENSP00000429089:H303P;ENSP00000309181:H303P;ENSP00000379437:H303P	ENSP00000309181:H303P	H	-	2	0	CCNE2	95964220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CAT		0.383	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		89	371	0	0	0	0.870114	0	89	371				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	96	0	0	0	0.150653	0	3	96				
PRSS55	203074	broad.mit.edu	37	8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C	rs374120510		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517																																						ENST00000328655.3																			1	Substitution - Missense(1)	p.I136T(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(406-408)aTa>aCa		protease, serine, 55		T	THR/ILE,THR/ILE	0,4406		0,0,2203	165.0	154.0	158.0		407,407	0.3	0.0	8		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS55	NM_001197020.1,NM_198464.3	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	136/277,136/353	10388864	1,13005	2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388864T>C	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.407T>C	8.37:g.10388864T>C	ENSP00000333003:p.Ile136Thr					PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T|PRSS51_ENST00000523024.1_RNA	p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	447	+			136			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.407T>C	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	T	8.645	0.896796	0.17686	0.0	1.16E-4	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88277	-2.36;-2.36	4.48	0.286	0.15710	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.174910	0.02476	N	0.087986	T	0.76385	0.3980	N	0.10809	0.05	0.09310	N	1	P	0.48589	0.912	P	0.44394	0.448	T	0.70400	-0.4882	10	0.09084	T	0.74	.	1.1043	0.01690	0.188:0.1065:0.1945:0.511	.	136	Q6UWB4	PRS55_HUMAN	T	136	ENSP00000333003:I136T;ENSP00000430459:I136T	ENSP00000333003:I136T	I	+	2	0	PRSS55	10426274	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.001000	0.13038	0.275000	0.22094	-0.256000	0.11100	ATA		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		169	63	0	0	0	0.870114	0	169	63				
MYO1H	283446	broad.mit.edu	37	12	109849777	109849777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:109849777G>A	ENST00000431443.2	+	13	1471	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	MYO1H_ENST00000310903.5_Missense_Mutation_p.A481T	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	491	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A481T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCAAACATGCACACTTCGA	0.398																																						ENST00000310903.5																			1	Substitution - Missense(1)	p.A481T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1441-1443)Gca>Aca		myosin IH							97.0	84.0	88.0					12																	109849777		1895	4128	6023	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109849777G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1471G>A	12.37:g.109849777G>A	ENSP00000444076:p.Ala491Thr					MYO1H_ENST00000431443.2_Missense_Mutation_p.A491T	p.A481T			B4DNW6	B4DNW6_HUMAN			14	1547	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.1441G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.356573	0.82243	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.27;-2.27	5.08	5.08	0.68730	.	.	.	.	.	D	0.86012	0.5831	L	0.45581	1.43	0.45704	D	0.998616	P	0.51791	0.948	P	0.48227	0.571	D	0.86734	0.1950	9	0.54805	T	0.06	.	12.8599	0.57908	0.0:0.1642:0.8358:0.0	.	481	F5H3C6	.	T	481;491	ENSP00000439182:A481T;ENSP00000444076:A491T	ENSP00000439182:A481T	A	+	1	0	MYO1H	108334160	1.000000	0.71417	0.939000	0.37840	0.816000	0.46133	3.716000	0.54904	2.362000	0.80069	0.563000	0.77884	GCA		0.398	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		9	5	0	0	0	0.307466	0	9	5				
ZIK1	284307	broad.mit.edu	37	19	58101497	58101497	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.V51V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463																																						ENST00000597850.1																			1	Substitution - coding silent(1)	p.V106V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(316-318)gtC>gtT		zinc finger protein interacting with K protein 1							119.0	101.0	107.0					19																	58101497		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101497C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.318C>T	19.37:g.58101497C>T						ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V	p.V106V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	533	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	106			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.318C>T	CCDS33135.1																																																																																				0.463	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		50	81	0	0	0	0.870114	0	50	81				
TGFBR3	7049	broad.mit.edu	37	1	92185486	92185486	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000525962.1	-	8	1438	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000212355.4_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502																																						ENST00000212355.4																			1	Substitution - coding silent(1)	p.E459E(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1375-1377)gaG>gaA		transforming growth factor, beta receptor III							154.0	153.0	154.0					1																	92185486		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185486C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1377G>A	1.37:g.92185486C>T						TGFBR3_ENST00000370399.2_Silent_p.E458E|TGFBR3_ENST00000525962.1_Silent_p.E459E	p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1842	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	459			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.1377G>A	CCDS30770.1																																																																																				0.502	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		7	221	0	0	0	0.278610	0	7	221				
SMAD4	4089	broad.mit.edu	37	18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.S504R(2)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|ovary(1)|prostate(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1510-1512)agT>agA		SMAD family member 4							116.0	103.0	107.0					18																	48604690		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604690T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1512T>A	18.37:g.48604690T>A	ENSP00000341551:p.Ser504Arg					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2050	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	504			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1512T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044567	0.55110	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98876	-5.2;-5.2	6.08	1.31	0.21738	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.074457	0.85682	D	0.000000	D	0.99115	0.9695	H	0.95679	3.705	0.80722	D	1	D	0.53885	0.963	P	0.62014	0.897	D	0.99383	1.0923	10	0.87932	D	0	.	9.4918	0.38965	0.0:0.5867:0.0:0.4133	.	504	Q13485	SMAD4_HUMAN	R	504	ENSP00000341551:S504R;ENSP00000381452:S504R	ENSP00000341551:S504R	S	+	3	2	SMAD4	46858688	0.931000	0.31567	1.000000	0.80357	0.999000	0.98932	0.003000	0.13083	0.216000	0.20781	0.533000	0.62120	AGT		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		7	69	0	0	0	0.278610	0	7	69				
ADCK3	56997	broad.mit.edu	37	1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	183					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q183*(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGGCCCGGCAGGCTAAGGC	0.617																																						ENST00000366779.1																			1	Substitution - Nonsense(1)	p.Q183*(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(547-549)Cag>Tag		aarF domain containing kinase 3							23.0	26.0	25.0					1																	227153070		2190	4277	6467	SO:0001587	stop_gained	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227153070C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.547C>T	1.37:g.227153070C>T	ENSP00000355741:p.Gln183*					ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366776.1_Nonsense_Mutation_p.Q108*|ADCK3_ENST00000366775.1_Nonsense_Mutation_p.Q28*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron	p.Q183*			Q8NI60	ADCK3_HUMAN			8	3318	+			183					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Nonsense_Mutation	SNP	ENST00000366779.1	37	c.547C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	56	26.536424	0.99969	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	.	.	.	5.9	5.9	0.94986	.	0.065738	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	1.7768	14.6367	0.68694	0.0:0.8543:0.1456:0.0	.	.	.	.	X	183;131;183;108;28;134	.	ENSP00000355737:Q28X	Q	+	1	0	ADCK3	225219693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.266000	0.43320	2.808000	0.96608	0.650000	0.86243	CAG		0.617	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		30	3	0	0	0	0.750413	0	30	3				
OR9Q2	219957	broad.mit.edu	37	11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.M207R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(619-621)aTg>aGg		olfactory receptor, family 9, subfamily Q, member 2							187.0	187.0	187.0					11																	57958582		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958582T>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.620T>G	11.37:g.57958582T>G	ENSP00000308714:p.Met207Arg						p.M207R	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	677	+		Breast(21;0.0589)	207						Missense_Mutation	SNP	ENST00000311591.3	37	c.620T>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580997	0.28180	.	.	ENSG00000186513	ENST00000311591	T	0.37235	1.21	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.225948	0.31392	N	0.007730	T	0.30885	0.0779	L	0.28400	0.85	0.38351	D	0.944334	P	0.40360	0.714	P	0.45428	0.48	T	0.12091	-1.0561	10	0.23891	T	0.37	-33.0798	10.3242	0.43783	0.0:0.08:0.0:0.92	.	207	Q8NGE9	OR9Q2_HUMAN	R	207	ENSP00000308714:M207R	ENSP00000308714:M207R	M	+	2	0	OR9Q2	57715158	0.001000	0.12720	1.000000	0.80357	0.465000	0.32709	1.150000	0.31639	2.201000	0.70794	0.460000	0.39030	ATG		0.488	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		57	95	0	0	0	0.870114	0	57	95				
ABCA7	10347	broad.mit.edu	37	19	1058148	1058148	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612																																						ENST00000263094.6																			1	Substitution - coding silent(1)	p.L1677L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5029-5031)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							88.0	84.0	85.0					19																	1058148		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058148C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5029C>T	19.37:g.1058148C>T						ABCA7_ENST00000435683.2_Silent_p.L1539L|ABCA7_ENST00000433129.1_Silent_p.L1677L	p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	37	5260	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1677					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.5029C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943133	0.18281	.	.	ENSG00000064687	ENST00000525073	.	.	.	4.52	2.34	0.29019	.	.	.	.	.	T	0.56558	0.1993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50955	-0.8766	4	.	.	.	.	8.435	0.32782	0.0:0.7951:0.0:0.2049	.	.	.	.	V	108	.	.	A	+	2	0	ABCA7	1009148	0.172000	0.23043	0.905000	0.35620	0.844000	0.47949	0.740000	0.26188	0.840000	0.34995	0.462000	0.41574	GCT		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		38	10	0	0	0	0.788014	0	38	10				
TRPS1	7227	broad.mit.edu	37	8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000220888.5	-	6	3301	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000395715.3_Missense_Mutation_p.D1061N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome																													ENST00000395715.3																			3	Substitution - Missense(3)	p.D1061N(2)|p.D1048N(1)	prostate(3)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3181-3183)Gat>Aat		trichorhinophalangeal syndrome I							165.0	157.0	160.0					8																	116426955		1886	4114	6000	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426955C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3142G>A	8.37:g.116426955C>T	ENSP00000220888:p.Asp1048Asn					TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N	p.D1061N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	3758	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1048			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3181G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267746|3.267746	0.59540|0.59540	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98362|.	-4.89;-4.86;-4.84;-4.87|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057572|.	0.64402|.	D|.	0.000001|.	T|T	0.48021|0.48021	0.1477|0.1477	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46142|.	0.873;0.799;0.873|.	P;B;P|.	0.44811|.	0.461;0.272;0.461|.	T|T	0.43163|0.43163	-0.9408|-0.9408	10|5	0.72032|.	D|.	0.01|.	.|.	19.865|19.865	0.96801|0.96801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1052;1048;1061|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	N|K	1061;1048;802;1052|172	ENSP00000379065:D1061N;ENSP00000220888:D1048N;ENSP00000428910:D802N;ENSP00000428680:D1052N|.	ENSP00000220888:D1048N|.	D|R	-|-	1|2	0|0	TRPS1|TRPS1	116496131|116496131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.241000|3.241000	0.51376|0.51376	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	519	0	0	0	0.307466	0	8	519				
COL27A1	85301	broad.mit.edu	37	9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356083.3																			1	Substitution - Missense(1)	p.L1693P(1)	prostate(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5077-5079)cTc>cCc		collagen, type XXVII, alpha 1							43.0	45.0	44.0					9																	117068939		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117068939T>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5078T>C	9.37:g.117068939T>C	ENSP00000348385:p.Leu1693Pro		OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.L1693P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			58	5469	+			1693			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5078T>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617313	0.66672	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.82344	-1.6	5.2	5.2	0.72013	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.93572	0.7948	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95150	0.8272	9	0.87932	D	0	.	13.0021	0.58681	0.0:0.0:0.0:1.0	.	1693	Q8IZC6	CORA1_HUMAN	P	1693;1700	ENSP00000348385:L1693P	ENSP00000348385:L1693P	L	+	2	0	COL27A1	116108760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	1.939000	0.56221	0.460000	0.39030	CTC		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		31	58	0	0	0	0.740014	0	31	58				
PM20D1	148811	broad.mit.edu	37	1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408																																						ENST00000367136.4																			1	Substitution - Missense(1)	p.P62T(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(184-186)Cca>Aca		peptidase M20 domain containing 1							50.0	48.0	48.0					1																	205817085		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205817085G>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.184C>A	1.37:g.205817085G>T	ENSP00000356104:p.Pro62Thr					PM20D1_ENST00000460624.1_5'UTR	p.P62T	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	228	-	Breast(84;0.201)		62					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.184C>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418971	0.62622	.	.	ENSG00000162877	ENST00000367136	T	0.12039	2.72	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.82823	2.61	0.49130	D	0.999753	D	0.69078	0.997	D	0.63703	0.917	T	0.24941	-1.0146	10	0.59425	D	0.04	.	13.7727	0.63036	0.0:0.0:0.8457:0.1543	.	62	Q6GTS8	P20D1_HUMAN	T	62	ENSP00000356104:P62T	ENSP00000356104:P62T	P	-	1	0	PM20D1	204083708	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.407000	0.59754	2.417000	0.82017	0.561000	0.74099	CCA		0.408	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		57	84	1	0	1.74474e-33	0.870114	1.96791e-33	57	84				
GOLGA7B	401647	broad.mit.edu	37	10	99623791	99623791	+	Silent	SNP	C	C	T	rs138920879	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:99623791C>T	ENST00000370602.1	+	3	308	c.243C>T	c.(241-243)tgC>tgT	p.C81C		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	81						Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.C81C(1)		endometrium(1)|large_intestine(3)|prostate(1)	5						GCCTGGCCTGCGCCACGGCCT	0.617																																						ENST00000370602.1																			1	Substitution - coding silent(1)	p.C81C(1)	prostate(1)	endometrium(1)|large_intestine(3)|prostate(1)	5						c.(241-243)tgC>tgT		golgin A7 family, member B		C		0,4406		0,0,2203	48.0	51.0	50.0		243	-2.8	0.9	10	dbSNP_134	50	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	GOLGA7B	NM_001010917.2		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		81/168	99623791	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99623791C>T	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.243C>T	10.37:g.99623791C>T							p.C81C	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			3	308	+			81					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.243C>T	CCDS31265.1																																																																																				0.617	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		26	57	0	0	0	0.819951	0	26	57				
KRT25	147183	broad.mit.edu	37	17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1			keratin 25									p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353																																						ENST00000312150.4																			1	Substitution - Nonsense(1)	p.Y399*(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1195-1197)taC>taG		keratin 25							154.0	152.0	153.0					17																	38905556		2203	4300	6503	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38905556G>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1197C>G	17.37:g.38905556G>C	ENSP00000310573:p.Tyr399*						p.Y399*	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			7	1257	-		Breast(137;0.00526)	399			Tail.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.1197C>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481049	0.96307	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.79	3.82	0.43975	.	0.483471	0.19444	N	0.114105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1482	0.31124	0.2443:0.0:0.7557:0.0	.	.	.	.	X	328;399	.	ENSP00000310573:Y399X	Y	-	3	2	KRT25	36159082	0.997000	0.39634	0.998000	0.56505	0.977000	0.68977	0.512000	0.22755	0.798000	0.33994	0.591000	0.81541	TAC		0.353	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		12	280	0	0	0	0.411799	0	12	280				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	54	0	0	0	0.150653	0	3	54				
ATG4C	84938	broad.mit.edu	37	1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303																																						ENST00000317868.4																		ATG4C/FBXO38(2)	2	Substitution - Missense(2)	p.F386L(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						c.(1156-1158)Ttt>Ctt		autophagy related 4C, cysteine peptidase							59.0	61.0	60.0					1																	63307165		2202	4299	6501	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63307165T>C	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1156T>C	1.37:g.63307165T>C	ENSP00000322159:p.Phe386Leu					ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN			10	1363	+			386					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.1156T>C	CCDS623.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682371	0.88542	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.66815	-0.23;-0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.81942	2.565	0.80722	D	1	B	0.31581	0.329	P	0.46975	0.533	T	0.75453	-0.3312	10	0.54805	T	0.06	-9.7203	15.7542	0.78011	0.0:0.0:0.0:1.0	.	386	Q96DT6	ATG4C_HUMAN	L	386	ENSP00000322159:F386L;ENSP00000360161:F386L	ENSP00000322159:F386L	F	+	1	0	ATG4C	63079753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.116000	0.64780	0.477000	0.44152	TTT		0.303	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		4	137	0	0	0	0.184627	0	4	137				
AIM1	202	broad.mit.edu	37	6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423																																						ENST00000369066.3																			1	Substitution - Nonsense(1)	p.L916*(1)	prostate(1)	breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2746-2748)tTg>tAg		absent in melanoma 1							92.0	104.0	99.0					6																	106969054		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:106969054T>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2747T>A	6.37:g.106969054T>A	ENSP00000358062:p.Leu916*						p.L916*	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3234	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	916					Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.2747T>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	44	10.952703	0.99494	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	5.91	5.91	0.95273	.	1.673730	0.02973	N	0.144619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8973	0.70654	0.0:0.0:0.0:1.0	.	.	.	.	X	1324;916	.	ENSP00000285105:L1324X	L	+	2	0	AIM1	107075747	0.997000	0.39634	0.885000	0.34714	0.387000	0.30353	3.516000	0.53436	2.251000	0.74343	0.533000	0.62120	TTG		0.423	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			11	167	0	0	0	0.387290	0	11	167				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	41	0	0	0	0.115264	0	3	41				
DNASE2B	58511	broad.mit.edu	37	1	84867590	84867590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:84867590delT	ENST00000370665.3	+	2	165	c.132delT	c.(130-132)actfs	p.T44fs		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	44					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTAGGTTTACTTTTTATAAGT	0.348																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(130-132)acfs		deoxyribonuclease II beta							44.0	43.0	44.0					1																	84867590		1823	4060	5883	SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84867590delT	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.132delT	1.37:g.84867590delT	ENSP00000359699:p.Thr44fs						p.T44fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	2	165	+			44					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Del	DEL	ENST00000370665.3	37	c.132delT	CCDS44167.1																																																																																				0.348	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		4	7						4	7	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			7	24						7	24	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144856960	144856961	+	In_Frame_Ins	INS	-	-	TTT			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:144856960_144856961insTTT	ENST00000369354.3	-	40	6713_6714	c.6524_6525insAAA	c.(6523-6525)aag>aaAAAg	p.2175_2175K>KK	PDE4DIP_ENST00000369359.4_In_Frame_Ins_p.2311_2311K>KK|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2175K>KK|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2069K>KK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2260K>KK			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2175					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGGCCATGCTTATTGGCAAA	0.48			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6931-6933)aca>aAAAca		phosphodiesterase 4D interacting protein																																				SO:0001652	inframe_insertion	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856960_144856961insTTT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6524_6525insAAA	1.37:g.144856960_144856961insTTT	ENSP00000358360:p.Lys2175dup					PDE4DIP_ENST00000369354.3_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2070insK|PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2261insK	p.2311_2312insK			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	6970_6971	-			2175					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	In_Frame_Ins	INS	ENST00000369354.3	37	c.6932_6933insAAA	CCDS30824.1																																																																																				0.480	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		17	134						17	134	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	6						3	6	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		8	617						8	617	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179358603	179358618	+	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	CTGAAAACCAAAATGT	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:179358603_179358618delCTGAAAACCAAAATGT	ENST00000234453.5	+	4	739_754	c.337_352delCTGAAAACCAAAATGT	c.(337-354)ctgaaaaccaaaatgtctfs	p.LKTKMS113fs	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	113						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAGTGAATCGCTGAAAACCAAAATGTCTGAACTTCG	0.333																																						ENST00000234453.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(337-354)ctfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3																																				SO:0001589	frameshift_variant	65977					cytoplasm|membrane		g.chr2:179358603_179358618delCTGAAAACCAAAATGT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.337_352delCTGAAAACCAAAATGT	2.37:g.179358603_179358618delCTGAAAACCAAAATGT	ENSP00000234453:p.Leu113fs					PLEKHA3_ENST00000461474.1_3'UTR	p.LKTKMS113fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		4	739_754	+			113					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.337_352delCTGAAAACCAAAATGT	CCDS33336.1																																																																																				0.333	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		34	81						34	81	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		7	4						7	4	---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)tttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(379-381)ttfs		nuclear receptor subfamily 1, group D, member 2							137.0	135.0	135.0					3																	24001168		2203	4300	6503	SO:0001589	frameshift_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24001168delT	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.379delT	3.37:g.24001168delT	ENSP00000310006:p.Phe127fs					NR1D2_ENST00000492552.1_3'UTR	p.F127fs	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			4	698	+			127					B2R8Q3|O00402|Q86XD4	Frame_Shift_Del	DEL	ENST00000312521.4	37	c.379delT	CCDS33718.1																																																																																				0.358	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			82	127						82	127	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		9	232						9	232	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			3	5						3	5	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56442726	56442726	+	3'UTR	DEL	G	G	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:56442726delG	ENST00000327381.6	+	0	7993				XKR4_ENST00000518261.1_Intron	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			aaggaaggaaggaaggaagga	0.418																																						ENST00000518261.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr8:56442726delG	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.*5940G>-	8.37:g.56442726delG														0	565	+								Q96PZ8	RNA	DEL	ENST00000327381.6	37		CCDS34893.1																																																																																				0.418	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	5						4	5	---	---	---	---
LOC102724710	102724710	broad.mit.edu	37	8	93591561	93591562	+	lincRNA	INS	-	-	TTTC	rs199843148|rs555738536	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:93591561_93591562insTTTC	ENST00000523284.1	-	0	395																											ctttctttctttttctttcttt	0.312														3241	0.647165	0.5847	0.7911	5008	,	,		16706	0.4613		0.8469	False		,,,				2504	0.6155					ENST00000523284.1																			0																																																			0							g.chr8:93591561_93591562insTTTC																													8.37:g.93591566_93591569dupTTTC														0	395	-									RNA	INS	ENST00000523284.1	37																																																																																						0.312	RP11-587H10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377512.1			3	5						3	5	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	5	10						5	10	---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55818554	55818555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:55818554_55818555insT	ENST00000313833.4	+	2	1691_1692	c.1446_1447insT	c.(1447-1449)tttfs	p.F483fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.F483fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	483										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGGGATGTTGTTTTTTTTGCC	0.441																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1444-1449)ttttttfs		F-box protein 34																																				SO:0001589	frameshift_variant	55030							g.chr14:55818554_55818555insT	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1454dupT	14.37:g.55818562_55818562dupT	ENSP00000313159:p.Phe483fs					FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.FF482fs	p.FF482fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1691_1692	+			482					Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Ins	INS	ENST00000313833.4	37	c.1446_1447insT	CCDS32086.1																																																																																				0.441	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			7	277						7	277	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000269305.4	-	6	796	c.607delG	c.(607-609)gtgfs	p.V203fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATACTCCACACGCAAATTT	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(5)|Deletion - Frameshift(4)|Complex - compound substitution(1)	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)	biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|breast(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(607-609)tgfs	Other conserved DNA damage response genes	tumor protein p53							131.0	116.0	121.0					17																	7578242		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578242delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.607delG	17.37:g.7578242delC	ENSP00000269305:p.Val203fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	739	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	203		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.607delG	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	13						28	13	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENST00000392485.2	-	2	625_648	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg	p.151_159SRTRSRSRS>S	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|MFSD11_ENST00000336509.4_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	151	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT	0.661			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		2	Substitution - coding silent(2)	p.R156R(1)|p.R136R(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(451-477)tcg>tc		serine/arginine-rich splicing factor 2																																				SO:0001651	inframe_deletion	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.453_476delCCGCACTCGTTCTCGATCTCGGTC	17.37:g.74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENSP00000376276:p.Ser151_Arg158del					MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_In_Frame_Del_p.SRTRSRSRS151del|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.SRTRSRSRS139del	p.SRTRSRSRS151del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	625_648	-			151			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	CCDS11749.1																																																																																				0.661	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		25	231						25	231	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)ttcfs	p.F1050fs	ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGCCGGAGTCTTCCCTTCTAA	0.473																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3148-3150)tcfs		intersectin 1 (SH3 domain protein)							125.0	113.0	117.0					21																	35195922		2203	4300	6503	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35195922delT	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3148delT	21.37:g.35195922delT	ENSP00000370719:p.Phe1050fs					ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron	p.F1050fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			25	3436	+			1050			SH3 3.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.3148delT	CCDS33545.1																																																																																				0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		71	115						71	115	---	---	---	---
RRP1	8568	broad.mit.edu	37	21	45209622	45209636	+	In_Frame_Del	DEL	GCCAGGACTCAGCGG	GCCAGGACTCAGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45209622_45209636delGCCAGGACTCAGCGG	ENST00000497547.1	+	1	229_243	c.112_126delGCCAGGACTCAGCGG	c.(112-126)gccaggactcagcggdel	p.ARTQR38del		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATACATCGTCGCCAGGACTCAGCGGGCCGCAGGTT	0.749																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(112-126)del		ribosomal RNA processing 1																																				SO:0001651	inframe_deletion	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45209622_45209636delGCCAGGACTCAGCGG	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.112_126delGCCAGGACTCAGCGG	21.37:g.45209622_45209636delGCCAGGACTCAGCGG	ENSP00000417464:p.Ala38_Arg42del						p.ARTQR38del	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	1	229_243	+			38					A6NIB2	In_Frame_Del	DEL	ENST00000497547.1	37	c.112_126delGCCAGGACTCAGCGG	CCDS42951.1																																																																																				0.749	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		4	3						4	3	---	---	---	---
