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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000369252.4	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1			30		Colorectal(252;0.0373)|Breast(234;0.231)			GGGTCCGTGAGCTCAGTCATT	0.463000																								0							SO:0001583	missense			ENST00000369252.4	1	1	hg19	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	ABLIM1	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC		TCGA-HV-A5A3-01A-11D-A26I-08	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	98	246	0	62	0	0	1	0	0	62	2		0	0	0	0	0	2	1	1.000000	98	242	0	61	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	1	2	3	2.062064	0	0.610000	2.040000	0.618152	0.950000	0.790000	1.000000	1.000000	0.944212	0.950000	1	0.870000	1.000000
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6			37					ACTCTTCGAGCGTGTAGTATA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000377602.4	1	1	hg19	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		TCGA-HV-A5A3-01A-11D-A26I-08	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	1	0	1	183	1249	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1.000000	181	1243	0	110	2		0	0	0	0	112	2	-3.318794	1	1	121412	1	34	1	1	4	5	3.268407	1	0.610000	2.040000	0.764890	0.700000	0.590000	1.000000	0.700000	0.756235	0.700000	0	0.640000	1.000000
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000320301.6	-	18	2603	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	p.G742S(2)|p.G737S(2)		237		Melanoma(3;0.117)|Lung SC(717;0.238)			TTTACTTGACCCACAAAGGCA	0.328000										HNSCC(58;0.16)														4	Substitution - Missense(4)						SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT		TCGA-HV-A5A3-01A-11D-A26I-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	89	248	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	88	244	0	36	2		0	0	0	0	36	2	-5.551275	1	1	0	0		1	1	2	3	2.042279	0	0.610000	2.040000	0.617009	0.880000	0.720000	1.000000	1.000000	0.887296	0.880000	1	0.800000	0.980000
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682000																								0							SO:0001583	missense			ENST00000441003.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.945	0.966802	0.18659	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.56776	0.44;0.44	3.52	2.34	0.29019	.	0.298471	0.27185	U	0.020528	T	0.55513	0.1925	L	0.51422	1.61	0.26066	N	0.981282	B	0.26195	0.144	B	0.43360	0.417	T	0.57579	-0.7787	10	0.62326	D	0.03	.	9.8992	0.41338	0.8285:0.1715:0.0:0.0	.	121	E7EUV1	.	L	121	ENSP00000415183:H121L;ENSP00000351956:H121L	ENSP00000351956:H121L	H	+	2	0	MUC2	1067612	1.000000	0.71417	0.876000	0.34364	0.336000	0.28762	5.272000	0.65559	0.388000	0.25054	0.334000	0.21626	CAC		TCGA-HV-A5A3-01A-11D-A26I-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	0	33	92	0	17	1	7.320374e-02	2	0	0	17	2		0	0	0	0	0	2	1	1.000000	33	91	0	17	2		0	0	0	0	17	2	-20.000000	1	1	0	0		1	1	2	3	2.005398	0	0.610000	2.040000	0.612365	0.870000	0.630000	1.000000	1.000000	0.867138	0.870000	1	0.740000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HV-A5A3-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	54	52	0	13	1	9.998535e-01	9	9	0	13	2	1	1	242	345	0	466	2	1	1.000000	54	51	0	13	2	1	1	4030	3985	0	13	2	-20.000000	1	1	121404	2	44	1	0	4	4	2.243856	1	0.610000	2.040000	0.656145	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1			34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)			GCATTTTCTGGTAATCCTCCG	0.388000																								0							SO:0001583	missense			ENST00000261488.6	1	1	hg19	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	ENOX1	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA		TCGA-HV-A5A3-01A-11D-A26I-08	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	1	106	235	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	105	233	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	2.026493	0	0.610000	2.040000	0.615858	0.990000	0.870000	1.000000	1.000000	0.982723	0.990000	1	0.950000	1.000000
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9			31					ATATTCCAGCTCAATCAGCAG	0.408000																								0							SO:0001583	missense			ENST00000238616.5	1	1	hg19	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	NEK9	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG		TCGA-HV-A5A3-01A-11D-A26I-08	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	1	0	1	113	299	0	50	1	9.435293e-01	2	13	0	50	2		0	0	0	0	0	2	1	1.000000	113	298	0	50	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	1	2	3	2.015909	0	0.610000	2.040000	0.614701	0.900000	0.760000	1.000000	1.000000	0.910717	0.900000	1	0.830000	0.990000
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2			73					TGGCTTATCATTTCCCTGGGG	0.507000																								0							SO:0001583	missense			ENST00000330753.4	1	1	hg19	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	FLRT2	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT		TCGA-HV-A5A3-01A-11D-A26I-08	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	132	374	0	68	1	4.931530e-01	4	2	0	68	2		0	0	0	0	0	2	1	1.000000	132	366	0	67	2		0	0	0	0	68	2	-20.000000	1	1	0	0		1	1	2	3	2.015909	0	0.610000	2.040000	0.614701	0.860000	0.730000	1.000000	0.860000	0.871010	0.860000	1	0.790000	0.940000
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000311550.5	-	6	738	c.627G>A	c.(625-627)ccG>ccA	p.P209P	GABRB3_ENST00000541819.2_Silent_p.P265P|GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000400188.3_Silent_p.P138P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3			68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAGAACTGCGGGAGCTCAA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000311550.5	1	1	hg19	CCDS10019.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	0	16	313	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	0.999928	15	308	0	77	2		0	0	0	0	77	2	-4.516341	1	1	121412	10	43	1	0	1	1	1.509347	1	0.610000	2.040000	0.477807	0.110000	0.060000	0.180000	0.120000	0.125350	0.110000	0	0.090000	0.150000
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000268053.6	-	4	852	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1			20				Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGCATCAATGAATCGCTGGGC	0.572000													Esophageal Squamous(87;818 1337 4093 9268 37314)											0							SO:0001583	missense			ENST00000268053.6	1	1	hg19	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	CYP11A1	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC		TCGA-HV-A5A3-01A-11D-A26I-08	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1	1	0	1	178	249	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1.000000	176	245	0	107	2		0	0	0	0	107	2	-20.000000	1	1	0	0		1	0	1	1	1.471164	1	0.610000	2.040000	0.466922	0.990000	0.880000	1.000000	1.000000	0.975940	0.990000	1	0.930000	1.000000
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629			22			Colorectal(24;0.198)		AGCTCCTATGGAGCAGGAGGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000262525.4	1	1	hg19	CCDS45463.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	1	0	0	99	198	0	29	1	9.435240e-01	5	7	0	29	2		0	0	0	0	0	2	1	1.000000	99	197	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	1.989677	0	0.610000	2.040000	0.611186	0.990000	0.920000	1.000000	1.000000	0.993988	0.990000	1	0.990000	1.000000
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			TCTTCAACCACGATTTTGACT	0.483000																								0							SO:0001583	missense			ENST00000577390.1	1	1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	CDH8	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG		TCGA-HV-A5A3-01A-11D-A26I-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1	82	228	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	82	224	0	41	2		0	0	0	0	41	2	-20.000000	1	1	121412	8	40	1	1	2	3	1.996244	0	0.610000	2.040000	0.611186	0.860000	0.710000	1.000000	1.000000	0.870601	0.860000	1	0.780000	0.960000
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	SO:0001583	missense	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;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		TCGA-HV-A5A3-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	72	133	0	69	1	9.999888e-01	26	10	0	69	2	1	1	292	439	0	1053	2	1	1.000000	71	130	0	68	2		0	0	0	0	69	2	-9.333433	1	1	121412	1	37	1	0	1	1	1.474059	1	0.610000	2.040000	0.441301	0.790000	0.650000	0.940000	0.800000	0.801319	0.790000	0	0.720000	0.870000
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.R441fs*16(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TGCGTCAGTGTCATCGACAGA	0.453000																								39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)						SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	SMAD4	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT		TCGA-HV-A5A3-01A-11D-A26I-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	69	115	0	28	1	9.028922e-01	4	5	0	28	2	1	1	157	179	0	425	2	1	1.000000	69	115	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	0	1	1	1.424897	1	0.610000	2.040000	0.443731	0.850000	0.690000	0.990000	0.860000	0.854127	0.850000	1	0.770000	0.930000
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					GTTGGTTTTCGCGCAGACTCT	0.453000																								0							SO:0001587	stop_gained			ENST00000341928.2	0	1	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA		TCGA-HV-A5A3-01A-11D-A26I-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	1	396	936	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1.000000	395	930	0	177	2		0	0	0	0	178	2	-20.000000	1	1	121412	1	35	1	1	2	3	2.070270	0	0.610000	2.040000	0.619289	0.990000	0.910000	1.000000	1.000000	0.983608	0.990000	1	0.950000	1.000000
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676			67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)			TTGCCACATTCTTCACATTTG	0.388000																								0							SO:0001587	stop_gained			ENST00000397121.2	0	1	hg19	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA		TCGA-HV-A5A3-01A-11D-A26I-08	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	0	83	270	0	32	0	5.617978e-02	0	2	0	32	2		0	0	0	0	0	2	1	1.000000	82	267	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.968556	0	0.610000	2.040000	0.608807	0.760000	0.620000	0.910000	0.770000	0.771992	0.760000	0	0.690000	0.840000
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			ACCTTTGGGTCGGTGTTTGCC	0.612000																								0							SO:0001583	missense			ENST00000293441.1	1	1	hg19	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081563	0.76528	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.91	3.91	0.45181	.	0.121407	0.31381	U	0.007749	T	0.62816	0.2459	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.99;1.0	B;D	0.81914	0.34;0.995	T	0.64449	-0.6405	10	0.39692	T	0.17	-10.4541	15.2111	0.73225	0.0:1.0:0.0:0.0	.	851;238	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	851;238;842;859	ENSP00000293441:R851Q;ENSP00000375689:R238Q;ENSP00000351984:R842Q;ENSP00000375690:R859Q	ENSP00000293441:R851Q	R	-	2	0	SHANK1	55881331	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.717000	0.68446	2.211000	0.71520	0.478000	0.44815	CGA		TCGA-HV-A5A3-01A-11D-A26I-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1	178	202	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	176	201	0	51	2		0	0	0	0	52	2	-20.000000	1	1	121406	1	29	1	1	2	3	2.562204	1	0.610000	2.040000	0.700449	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	p.D8E(1)		80	Ovarian(34;0.19)				GACAGAGGCCGTCCCTGCCTG	0.612000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000324134.6	1	1	hg19	CCDS12864.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1	85	339	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1.000000	84	338	0	46	2		0	0	0	0	47	2	-20.000000	1	1	121412	15	40	1	1	2	3	2.586541	1	0.610000	2.040000	0.700449	0.850000	0.690000	1.000000	1.000000	0.858893	0.850000	1	0.770000	0.940000
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	p.S470S(1)		67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		CTGTGGAGATGCTGACATTCT	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000376350.3	1	1	hg19	CCDS33110.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1	70	282	0	45	1	1	42	69	0	45	2		0	0	0	0	0	2	1	1.000000	68	278	0	45	2		0	0	0	0	45	2	-20.000000	1	1	0	0		1	1	2	3	2.610358	1	0.610000	2.040000	0.701149	0.840000	0.670000	1.000000	1.000000	0.854360	0.840000	0	0.760000	0.950000
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			TACCTCTCCAGGACAGTTCCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000375254.3	1	1	hg19	CCDS189.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	0	191	960	0	90	0	7.018283e-01	0	14	0	90	2		0	0	0	0	0	2	1	1.000000	191	954	0	90	2		0	0	0	0	90	2	-20.000000	1	1	0	0		1	1	3	4	2.658233	1	0.610000	2.040000	0.706635	0.740000	0.630000	1.000000	0.730000	0.791662	0.740000	0	0.680000	1.000000
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3			50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		GAAACTCTGTCATGGTTCTCC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000456743.1	1	1	hg19	CCDS31107.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	1	0	1	365	1697	0	206		0	0	0	0	206	2		0	0	0	0	0	2	1	1.000000	344	1601	0	248	2		0	0	0	0	206	2	-20.000000	1	1	0	0		1	1	2	3	2.585007	1	0.610000	2.040000	0.701149	0.750000	0.670000	0.830000	0.750000	0.758569	0.750000	0	0.710000	0.790000
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754			8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CCCAGAGGAGGGTACCTCAAT	0.542000																								0							SO:0001583	missense			ENST00000530275.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	RP4-562N20.1	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT		TCGA-HV-A5A3-01A-11D-A26I-08	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	1	0	1	19	55	0	14	0	0	1	0	0	14	2		0	0	0	0	0	2	1	0.999996	18	55	0	14	2		0	0	0	0	14	2	-16.562480	1	1	0	0		1	1	2	3	2.053657	0	0.610000	2.040000	0.618152	0.870000	0.560000	1.000000	1.000000	0.859125	0.870000	1	0.700000	1.000000
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)			11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		GACGGACGAGCGGAAAGCCCA	0.582000																								0							SO:0001583	missense			ENST00000376075.3	1	1	hg19	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	COX4I2	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG		TCGA-HV-A5A3-01A-11D-A26I-08	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1	50	259	0	65	0	5.034395e-01	0	10	0	65	2		0	0	0	0	0	2	1	1.000000	50	258	0	64	2		0	0	0	0	65	2	-20.000000	1	1	121412	6	35	1	1	2	3	2.542705	1	0.610000	2.040000	0.699746	0.690000	0.520000	0.900000	0.690000	0.700339	0.690000	0	0.600000	0.790000
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B			19		Ovarian(80;0.00965)|all_neural(38;0.0416)			GGCAGCCTCACGGCTCCCTGC	0.701000																								0							SO:0001583	missense			ENST00000339464.4	1	1	hg19	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		TCGA-HV-A5A3-01A-11D-A26I-08	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	1	0	1	49	117	0	30	1	9.996707e-01	18	15	0	30	2		0	0	0	0	0	2	1	1.000000	49	116	0	30	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	1	2	3	2.069050	0	0.610000	2.040000	0.619289	0.990000	0.770000	1.000000	1.000000	0.953978	0.990000	1	0.870000	1.000000
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L|ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)			5			OV - Ovarian serous cystadenocarcinoma(117;0.147)		GGATCCAGCTCGGATCTATTA	0.343000													GBM(30;387 605 18606 28805 47989)											0							SO:0001583	missense			ENST00000284727.4	1	1	hg19	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	ATP5G3	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA		TCGA-HV-A5A3-01A-11D-A26I-08	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	1	0	1	99	371	0	33	1	1	112	253	0	33	2		0	0	0	0	0	2	1	1.000000	98	366	0	32	2		0	0	0	0	33	2	-3.261642	1	1	0	0		1	1	2	3	2.434448	1	0.610000	2.040000	0.691040	0.880000	0.720000	1.000000	1.000000	0.887886	0.880000	1	0.790000	1.000000
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O			14					CTCTTATGGGCAGTTAATTCT	0.458000																								0							SO:0001583	missense			ENST00000272852.3	1	1	hg19	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	CPO	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG		TCGA-HV-A5A3-01A-11D-A26I-08	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	1	0	1	158	666	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	158	662	0	79	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	1	2	3	2.434448	1	0.610000	2.040000	0.691040	0.790000	0.680000	1.000000	0.800000	0.818973	0.790000	0	0.730000	0.890000
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		TGCTCTGATATGTTGTTTTTT	0.323000																								0							SO:0001583	missense			ENST00000404125.1	1	1	hg19	CCDS33197.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	PSME4	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT		TCGA-HV-A5A3-01A-11D-A26I-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	63	153	0	16	1	8.343585e-01	4	6	0	16	2		0	0	0	0	0	2	1	1.000000	63	151	0	16	2		0	0	0	0	16	2	-20.000000	1	1	0	0		1	1	2	3	2.009146	0	0.610000	2.040000	0.612365	0.950000	0.760000	1.000000	1.000000	0.940315	0.950000	1	0.860000	1.000000
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000452905.2_Intron|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1			52				Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597000																								0							SO:0001583	missense			ENST00000393434.2	1	1	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	ALDH1L1	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC		TCGA-HV-A5A3-01A-11D-A26I-08	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1	113	404	0	84	1	9.998068e-01	13	34	0	84	2		0	0	0	0	0	2	1	1.000000	110	399	0	83	2		0	0	0	0	84	2	-3.574347	1	1	0	0		1	1	2	3	2.542371	1	0.610000	2.040000	0.694728	0.920000	0.770000	1.000000	1.000000	0.919436	0.920000	1	0.840000	1.000000
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)			38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		TCCACTCGTACTCCCAAATGA	0.443000																								0							SO:0001587	stop_gained			ENST00000491148.1	0	1	hg19	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	CPB1	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC		TCGA-HV-A5A3-01A-11D-A26I-08	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	1	0	1	213	344	0	56	0	9.995649e-01	0	22	0	56	2		0	0	0	0	0	2	1	1.000000	212	340	0	56	2		0	0	0	0	56	2	-20.000000	1	1	0	0		1	1	2	3	2.542371	1	0.610000	2.040000	0.694728	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2			20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		ATAATTCTGACGATCACTTCC	0.507000																								0							SO:0001583	missense			ENST00000382199.2	1	1	hg19	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	IGF2BP2	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC		TCGA-HV-A5A3-01A-11D-A26I-08	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	1	0	1	124	423	0	57	1	9.999975e-01	17	48	0	57	2		0	0	0	0	0	2	1	1.000000	124	419	0	57	2		0	0	0	0	57	2	-20.000000	1	1	121412	1	31	1	1	2	3	2.542371	1	0.610000	2.040000	0.694728	0.950000	0.800000	1.000000	1.000000	0.944677	0.950000	1	0.870000	1.000000
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	p.A540A(1)		49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGTCCCCGGCGTTGAGCAGCG	0.682000													Ovarian(141;50 1831 27899 33809 37648)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000239449.4	1	1	hg19	CCDS4256.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1	209	421	0	97	1	9.894051e-01	9	8	0	97	2		0	0	0	0	0	2	1	1.000000	193	416	0	107	2		0	0	0	0	97	2	-2.774725	1	1	0	0		1	1	2	3	2.026520	0	0.610000	2.040000	0.615858	0.990000	0.970000	1.000000	1.000000	0.998917	0.990000	1	0.990000	1.000000
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTGAAGGCTGCGAGTCCAGTG	0.597000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	FAT2	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA		TCGA-HV-A5A3-01A-11D-A26I-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	61	133	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	61	133	0	28	2		0	0	0	0	29	2	-20.000000	1	1	121412	15	38	1	1	2	3	2.026520	0	0.610000	2.040000	0.615858	0.990000	0.830000	1.000000	1.000000	0.977652	0.990000	1	0.930000	1.000000
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					TAGTGCCTTTGTTTGGTTTCA	0.527000										HNSCC(64;0.19)														0							SO:0001583	missense			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	ADAMTS12	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC		TCGA-HV-A5A3-01A-11D-A26I-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	117	881	0	102	0	1.094302e-01	0	5	0	102	2		0	0	0	0	0	2	1	1.000000	115	873	0	102	2		0	0	0	0	102	2	-20.000000	1	1	0	0		1	1	2	3	2.034921	0	0.610000	2.040000	0.615858	0.380000	0.320000	1.000000	0.390000	0.415608	0.380000	0	0.350000	0.430000
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	ENST00000403625.2	+	29	7984	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			CCAAAGGGAAGGACCCTGCCC	0.652000																								0							SO:0001583	missense			ENST00000403625.2	0	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892169|1.892169	0.33442|0.33442	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.69435	.|-0.38;-0.38;-0.4;-0.4;-0.38	4.96|4.96	-0.072|-0.072	0.13741|0.13741	.|.	.|0.524558	.|0.17486	.|N	.|0.172521	.|T	.|0.48537	.|0.1505	L|L	0.32530|0.32530	0.975|0.975	0.24930|0.24930	N|N	0.991929|0.991929	.|P;P	.|0.42692	.|0.682;0.787	.|B;B	.|0.39258	.|0.154;0.295	.|T	.|0.44726	.|-0.9309	.|10	.|0.87932	.|D	.|0	-7.2859|-7.2859	4.9971|4.9971	0.14245|0.14245	0.5799:0.149:0.271:0.0|0.5799:0.149:0.271:0.0	.|.	.|2566;2374	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1620|2566;2563;2374;2384;2384;2369	.|ENSP00000385048:K2566N;ENSP00000385727:K2563N;ENSP00000384313:K2374N;ENSP00000384099:K2384N;ENSP00000261569:K2369N	.|ENSP00000261569:K2369N	G|K	+|+	1|3	0|2	MAST4|MAST4	66498452|66498452	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	0.740000|0.740000	0.26188|0.26188	0.102000|0.102000	0.17638|0.17638	0.561000|0.561000	0.74099|0.74099	GGA|AAG		TCGA-HV-A5A3-01A-11D-A26I-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	21	47	0	8	1	9.857599e-01	5	14	0	8	2		0	0	0	0	0	2	1	0.999999	20	47	0	8	2		0	0	0	0	8	2	-20.000000	1	1	0	0		1	1	2	3	2.034921	0	0.610000	2.040000	0.615858	0.990000	0.690000	1.000000	1.000000	0.946774	0.990000	1	0.850000	1.000000
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	ENST00000403625.2	+	29	7985	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			CAAAGGGAAGGACCCTGCCCC	0.647000																								0							SO:0001583	missense			ENST00000403625.2	0	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533575|2.533575	0.45073|0.45073	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67698|.	-0.26;-0.26;-0.28;-0.27;-0.25|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.511218|.	0.18007|.	N|.	0.154702|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.14661|0.14661	0.345|0.345	0.32109|0.32109	N|N	0.58962|0.58962	P;P|.	0.52692|.	0.924;0.955|.	P;P|.	0.54312|.	0.564;0.748|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.87932|.	D|.	0|.	-10.3885|-10.3885	16.9304|16.9304	0.86189|0.86189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2567;2375|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	Y|V	2567;2564;2375;2385;2385;2370|1620	ENSP00000385048:D2567Y;ENSP00000385727:D2564Y;ENSP00000384313:D2375Y;ENSP00000384099:D2385Y;ENSP00000261569:D2370Y|.	ENSP00000261569:D2370Y|.	D|G	+|+	1|2	0|0	MAST4|MAST4	66498453|66498453	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	2.887000|2.887000	0.48586|0.48586	2.734000|2.734000	0.93682|0.93682	0.561000|0.561000	0.74099|0.74099	GAC|GGA		TCGA-HV-A5A3-01A-11D-A26I-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	21	49	0	8	1	9.833195e-01	5	14	0	8	2		0	0	0	0	0	2	1	0.999999	20	49	0	8	2		0	0	0	0	8	2	-20.000000	1	1	0	0		1	1	2	3	2.034921	0	0.610000	2.040000	0.615858	0.990000	0.670000	1.000000	1.000000	0.935527	0.990000	1	0.820000	1.000000
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A			14					TGTGAGGAGCGCATCAAGTCG	0.597000																								0							SO:0001583	missense			ENST00000338588.3	1	1	hg19	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		TCGA-HV-A5A3-01A-11D-A26I-08	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	1	0	1	47	156	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	1.000000	47	156	0	35	2		0	0	0	0	35	2	-3.990922	1	1	121412	3	29	1	1	2	3	2.000533	0	0.610000	2.040000	0.612365	0.760000	0.580000	0.990000	0.760000	0.771775	0.760000	0	0.660000	0.870000
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5			38	Melanoma(164;0.0783)				TGATGTCCTACGATCGGTACA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000408906.2	1	1	hg19	CCDS43668.1																																																																																				TCGA-HV-A5A3-01A-11D-A26I-08	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1	1	0	1	309	642	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	308	640	0	114	2		0	0	0	0	114	2	-20.000000	1	1	121126	1	40	1	1	2	3	2.000533	0	0.610000	2.040000	0.612365	0.990000	0.960000	1.000000	1.000000	0.998361	0.990000	1	0.990000	1.000000
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1			9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		AGCCTCCTCCCGCTGTTTCCG	0.602000																								0							SO:0001583	missense			ENST00000350498.3	1	1	hg19	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	PDAP1	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG		TCGA-HV-A5A3-01A-11D-A26I-08	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	1	0	1	148	355	0	72	1	1	68	148	0	72	2		0	0	0	0	0	2	1	1.000000	145	350	0	72	2		0	0	0	0	72	2	-9.162866	1	0	121412	1	29	1	1	2	3	2.000533	0	0.610000	2.040000	0.612365	0.960000	0.830000	1.000000	1.000000	0.957204	0.960000	1	0.900000	1.000000