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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMARCA2	6595	broad.mit.edu	37	9	2161877	2161877	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr9:2161877C>T	uc003zhc.3	+	27	4272	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	SMARCA2_uc003zhd.3_Silent_p.I1391I|SMARCA2_uc010mha.3_Silent_p.I1324I|SMARCA2_uc011llw.2_Silent_p.I95I|SMARCA2_uc011llx.2_Silent_p.I55I|SMARCA2_uc003zhe.3_Silent_p.I97I|SMARCA2_uc010mhb.3_Silent_p.I79I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1391					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCTATCATCGATACTGTGA	0.488000														17			9		0	0	0.000274275	0	0
FRG2B	441581	broad.mit.edu	37	10	135439077	135439077	+	Silent	SNP	T	C	C	rs149978897	by1000genomes	TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr10:135439077T>C	uc010qvg.2	-	3	416	c.363A>G	c.(361-363)tcA>tcG	p.S121S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	121						nucleus		p.S122S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTTATTCAATGACAAGCTGC	0.517000														0			2		0	0	0.000274275	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590562	140590562	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr5:140590562G>C	uc003liz.3	+	0	2272	c.2083G>C	c.(2083-2085)Gcc>Ccc	p.A695P	PCDHB12_uc011dak.2_Missense_Mutation_p.A358P|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	695					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCGTTGGCCTCAGTGTC	0.711000														76			22		0	0	0.000295444	0	0
PNN	5411	broad.mit.edu	37	14	39648305	39648305	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr14:39648305G>A	uc001wuw.4	+	6	606	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	170	Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CAAAAGCGGCGCCAGGAAATT	0.358000														27			12		0	0	0.000151284	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183148	167183148	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:167183148C>T	uc003fes.1	-	4	813	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	SERPINI2_uc003fer.1_Missense_Mutation_p.E238K|SERPINI2_uc003fet.1_Missense_Mutation_p.E238K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	238					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TAAGACAATTCTAAAACTTGG	0.313000														71			5		0	0	0.000602214	0	0
RSBN1L	222194	broad.mit.edu	37	7	77325804	77325804	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:77325804C>T	uc010ldt.1	+	0	62	c.18C>T	c.(16-18)agC>agT	p.S6S	LOC100505854_uc003ugj.1_Non-coding_Transcript|LOC100505854_uc003ugk.4_Non-coding_Transcript	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	6						nucleus		p.P5L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACCGCCGAGCCCCGTGCACT	0.692000														9			45		0	0	0.000781405	0	0
TP63	8626	broad.mit.edu	37	3	189349361	189349361	+	Silent	SNP	C	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:189349361C>A	uc003fry.2	+	0	146	c.57C>A	c.(55-57)atC>atA	p.I19I	TP63_uc003frx.2_Silent_p.I19I|TP63_uc003frz.2_Silent_p.I19I|TP63_uc010hzc.1_Silent_p.I19I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	19	Transcription activation.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCCTTACATCCAGCGGTGAG	0.398000										HNSCC(45;0.13)				20			15		5.01169e-05	0.000435442	0.000566183	1	0
MST1P2	11209	broad.mit.edu	37	1	16975005	16975005	+	RNA	SNP	C	T	T	rs75691517	by1000genomes	TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:16975005C>T	uc010och.2	+	6		c.1465C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCCACGACTTCGCTCCCGCTC	0.632000														20			5		0	0	0.000978159	0	0
NDUFA4	4697	broad.mit.edu	37	7	10977742	10977742	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:10977742T>A	uc003srx.2	-	2	293	c.164A>T	c.(163-165)aAa>aTa	p.K55I		NM_002489	NP_002480	O00483	NDUA4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	55					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	GGGACCCAGTTTGTTCCAGGG	0.318000														36			13		0	0	0.000422831	0	0
COL4A2	1284	broad.mit.edu	37	13	111137367	111137367	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr13:111137367C>T	uc001vqx.3	+	32	3307	c.3018C>T	c.(3016-3018)ggC>ggT	p.G1006G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1006	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATACCTGGGCGCAAAAGGTG	0.627000														8			3		0	0	6.4e-05	0	0
RFC2	5982	broad.mit.edu	37	7	73646517	73646517	+	Silent	SNP	C	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:73646517C>A	uc003uaj.3	-	10	1009	c.984G>T	c.(982-984)gcG>gcT	p.A328A	RFC2_uc003uak.3_Silent_p.A294A	NM_181471	NP_852136	P35250	RFC2_HUMAN	Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA.	328					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TCACTCCTTCCGCTATTTTCA	0.433000														48			4		0.000602214	0.00506625	0.000602214	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000														16			4		0	0	0.00024832	0	0
CPEB1	64506	broad.mit.edu	37	15	83226697	83226697	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr15:83226697C>T	uc002bit.3	-	3	736	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CPEB1_uc002bir.3_Missense_Mutation_p.G65E|CPEB1_uc002bis.3_Missense_Mutation_p.G65E|CPEB1_uc010uod.2_Intron|CPEB1_uc002biq.3_Missense_Mutation_p.G65E|CPEB1_uc010uoe.2_Missense_Mutation_p.G143E|CPEB1_uc002biu.3_Missense_Mutation_p.G167E|CPEB1_uc010uof.2_Missense_Mutation_p.G65E|CPEB1_uc002biv.3_Missense_Mutation_p.G140E|CPEB1_uc002bip.3_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	140	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding	p.G65E(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGGGGTTTTCCTAGGACATT	0.522000														31			17		0	0	0.00121646	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654923	46654923	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr22:46654923T>C	uc003bhh.3	-	0	4297	c.4297A>G	c.(4297-4299)Agt>Ggt	p.S1433G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1433					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.E1432*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTAAGACACTTTCAATTCCT	0.343000														66			11		0	0	0.000978159	0	0
KIF2B	84643	broad.mit.edu	37	17	51901912	51901912	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr17:51901912C>T	uc002iua.2	+	0	1674	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	506					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCGGGACTCCTTTATAGGCC	0.483000														40			9		0	0	0.000442599	0	0
ZNF711	7552	broad.mit.edu	37	X	84526576	84526576	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chrX:84526576G>T	uc004eeq.3	+	9	3052	c.2166G>T	c.(2164-2166)ttG>ttT	p.L722F	ZNF711_uc004eep.3_Missense_Mutation_p.L676F|ZNF711_uc004eeo.3_Missense_Mutation_p.L676F|ZNF711_uc011mqy.1_Missense_Mutation_p.L275F	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	676					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATCAGCCATTGAAATGTAAAA	0.373000														45			18		3.52763e-06	3.16889e-05	0.000566183	1	0
ZNF629	23361	broad.mit.edu	37	16	30794344	30794344	+	Silent	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr16:30794344G>A	uc002dzs.1	-	2	1513	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCTTGCCGCAGTCGGCGC	0.612000														36			29		0	0	0.00127121	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														51			4		0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3081268	3081268	+	Silent	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr8:3081268G>A	uc022aqr.1	-	27	4857	c.4467C>T	c.(4465-4467)atC>atT	p.I1489I	CSMD1_uc011kwj.2_Silent_p.I882I|CSMD1_uc003wqe.3_Silent_p.I646I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1490	CUB 9.					integral to membrane		p.I1489I(1)|p.I1218I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATCAAGGCGATGACAAAGT	0.428000														62			21		0	0	0.000720815	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624758	1624758	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr8:1624758C>T	uc003wpl.3	+	7	2119	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V	DLGAP2_uc003wpm.3_Silent_p.V660V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	753					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCACTCTGTCGGGGTGCAAG	0.542000														2			6		0	0	0.00116845	0	0
abParts	0	broad.mit.edu	37	14	106790987	106790987	+	RNA	SNP	A	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr14:106790987A>G	uc021ser.1	-	619		c.17405T>C								Parts of antibodies, mostly variable regions.																		GCGCACAATGACTTCCCCTCA	0.572000														35			5		0	0	0.000602214	0	0
PHTF2	57157	broad.mit.edu	37	7	77583129	77583129	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:77583129C>A	uc003ugs.4	+	17	2381	c.2255C>A	c.(2254-2256)cCg>cAg	p.P752Q	PHTF2_uc010ldv.3_Missense_Mutation_p.P662Q|PHTF2_uc003ugq.4_Missense_Mutation_p.P714Q|PHTF2_uc003ugt.4_Missense_Mutation_p.P718Q|PHTF2_uc003ugu.4_Missense_Mutation_p.P714Q|PHTF2_uc022agp.1_Missense_Mutation_p.P752Q	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	752	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAATGAATCCGCTGCTTTAT	0.373000														48			4		0.000602214	0.00506625	0.000602214	1	0
SNX33	257364	broad.mit.edu	37	15	75942635	75942635	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr15:75942635G>C	uc002bau.3	+	0	1288	c.1192G>C	c.(1192-1194)Gtg>Ctg	p.V398L	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_Missense_Mutation_p.V85L	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	398	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GCTCAGCACTGTGGCATCAGA	0.572000														23			7		0	0	0.000157383	0	0
C7orf31	136895	broad.mit.edu	37	7	25176283	25176283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:25176283G>A	uc003sxn.1	-	9	1642	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	361										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AAAACTCTAGGAGTACAATCT	0.453000														56			26		0	0	0.000878237	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681625	125681625	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr9:125681625T>C	uc004bnk.3	-	1	663	c.589A>G	c.(589-591)Aaa>Gaa	p.K197E	ZBTB26_uc004bnj.3_Missense_Mutation_p.K197E|ZBTB26_uc022bnc.1_Missense_Mutation_p.K197E	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TGATCTTTTTTACTTCTAACC	0.388000														39			12		0	0	0.000151284	0	0
RAC1	5879	broad.mit.edu	37	7	6439807	6439807	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:6439807T>G	uc003spx.3	+	3	517	c.276T>G	c.(274-276)aaT>aaG	p.N92K	RAC1_uc003spw.3_Missense_Mutation_p.N111K|RAC1_uc021zzg.1_Missense_Mutation_p.N48K	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	92					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CATTTGAAAATGTCCGTGCAA	0.338000														55			23		0	0	0.00127121	0	0
C6orf222	389384	broad.mit.edu	37	6	36288968	36288968	+	Silent	SNP	T	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr6:36288968T>G	uc003oly.3	-	9	1810	c.1632A>C	c.(1630-1632)gcA>gcC	p.A544A		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	544										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTGGAGAAGTGCCACAAGCT	0.542000														1			10		0	0	0.000442599	0	0
EPPK1	83481	broad.mit.edu	37	8	144946344	144946344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr8:144946344C>T	uc003zaa.1	-	0	1091	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	360						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGCCTGCTCGGCCACCAGG	0.662000														24			4		0	0	0.00024832	0	0
SNIP1	79753	broad.mit.edu	37	1	38005830	38005830	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:38005830C>T	uc001cbi.3	-	2	927	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	285	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCGGCGGTGTCGACCCAGTAG	0.468000														53			18		0	0	0.00074312	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405181	130405181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:130405181C>T	uc003enj.3	-	14	3930	c.3349G>A	c.(3349-3351)Gtg>Atg	p.V1117M		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1117					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAGCCATTCACAGTGGCATAG	0.463000														41			14		0	0	0.000151284	0	0
KCNN4	3783	broad.mit.edu	37	19	44271811	44271811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr19:44271811G>A	uc002oxl.3	-	7	1564	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	390					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	p.R390W(2)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCCAGGGCCCGGTGTGAGCTG	0.622000														79			14		0	0	0.000308642	0	0
SMAD6	4091	broad.mit.edu	37	15	67073772	67073772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr15:67073772G>A	uc002aqf.3	+	3	2313	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.V203I	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	464	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCCCAACAGCGTCCGCATCAG	0.682000														19			13		0	0	0.000219431	0	0
PCF11	51585	broad.mit.edu	37	11	82879917	82879917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr11:82879917G>A	uc001ozx.4	+	7	2885	c.2540G>A	c.(2539-2541)cGg>cAg	p.R847Q	PCF11_uc010rsu.1_Missense_Mutation_p.R978Q	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	847	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGTGGTTTTCGGTTTGAAGGT	0.567000														28			16		0	0	0.000422831	0	0
PKP1	5317	broad.mit.edu	37	1	201286702	201286702	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:201286702C>T	uc001gwd.3	+	4	1100	c.849C>T	c.(847-849)gtC>gtT	p.V283V	PKP1_uc001gwe.3_Silent_p.V283V|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	283					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTGGCAGGTCTATCAGCTGG	0.547000														61			9		0	0	0.000978159	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728091	42728091	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:42728091C>T	uc003clv.1	+	0	1081	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	327								p.E326D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTGAGGAGGGCGCTGTGGCCT	0.572000														29			12		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	14	106790989	106790989	+	RNA	SNP	T	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr14:106790989T>C	uc021ser.1	-	619		c.17403A>G								Parts of antibodies, mostly variable regions.																		GCACAATGACTTCCCCTCACT	0.572000														36			5		0	0	0.000602214	0	0
RNF148	378925	broad.mit.edu	37	7	122342619	122342619	+	Silent	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr7:122342619G>A	uc003vkk.1	-	0	403	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	62						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AATGATTCCCGAACACTCCAC	0.468000														24			13		0	0	0.000219431	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709190	176709190	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:176709190C>A	uc001gkz.3	+	13	5173	c.4009C>A	c.(4009-4011)Cat>Aat	p.H1337N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1337					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTTTCCACCATACCACCTC	0.488000														126			24		3.6726e-16	3.41488e-15	0.000586117	1	0
IMPG2	50939	broad.mit.edu	37	3	101022994	101022994	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:101022994A>T	uc003duq.2	-	2	700	c.497T>A	c.(496-498)aTg>aAg	p.M166K	IMPG2_uc011bhe.2_Missense_Mutation_p.M29K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	166					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACTTACCTTCATGATTAAGCT	0.393000														40			17		0	0	0.00074312	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412486	19412486	+	RNA	SNP	G	A	A	rs140236254	by1000genomes	TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr13:19412486G>A	uc010tcj.1	-	0		c.33624C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTCTACTTCGGAAATATCAG	0.348000														14			6		0	0	0.00116845	0	0
MARK1	4139	broad.mit.edu	37	1	220777410	220777410	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:220777410T>G	uc009xdw.3	+	6	1022	c.425_splice	c.e6-1	p.G142_splice	MARK1_uc001hmn.4_Splice_Site_p.G142_splice|MARK1_uc010pun.2_Splice_Site_p.G142_splice|MARK1_uc001hmm.4_Splice_Site_p.G120_splice	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	142	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGATTCAGGTGAAGTATTTG	0.323000														96			12		0	0	0.000308642	0	0
FAM78B	149297	broad.mit.edu	37	1	166135377	166135377	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:166135377T>C	uc021pef.1	-	0	582	c.109A>G	c.(109-111)Acc>Gcc	p.T37A	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Silent_p.R15R	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	37										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					ATGGGCGAGGTCTCCTCGATG	0.652000														7			5		0	0	0.000157383	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482052	123482052	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr12:123482052C>T	uc001uej.1	-	9	1491	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	PITPNM2_uc001uek.1_Missense_Mutation_p.G431E	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	431					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GATGGTGCCTCCGTGCAGCAC	0.642000														46			25		0	0	0.000720815	0	0
NOLC1	9221	broad.mit.edu	37	10	103917932	103917932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr10:103917932G>A	uc001kup.2	+	4	803	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	NOLC1_uc001kuo.2_Missense_Mutation_p.V190M|NOLC1_uc001kuq.2_Missense_Mutation_p.V191M|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	190	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GATAACACCTGTGACAGTTAA	0.512000														27			6		0	0	8.12818e-05	0	0
ZFP42	132625	broad.mit.edu	37	4	188924150	188924150	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr4:188924150C>T	uc003izh.1	+	3	597	c.189C>T	c.(187-189)ctC>ctT	p.L63L	ZFP42_uc003izi.1_Silent_p.L63L|ZFP42_uc021xvm.1_Silent_p.L63L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	63					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CTCAGGCTCTCGGAGGGGATG	0.512000														48			14		0	0	0.000308642	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408731	105408731	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr14:105408731C>T	uc010axc.1	-	6	13177	c.13057G>A	c.(13057-13059)Gct>Act	p.A4353T	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A4253T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4353						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGATCAGCGGAAGGGGGC	0.622000														68			29		0	0	0.00106085	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885324	180885324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:180885324G>A	uc001gok.2	+	1	152	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	29										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCCAGCCCCGTGGAGGGGAC	0.607000														47			11		0	0	0.000219431	0	0
WNK2	65268	broad.mit.edu	37	9	95993181	95993181	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr9:95993181G>T	uc004ati.1	+	2	866	c.866G>T	c.(865-867)cGg>cTg	p.R289L	WNK2_uc011lud.1_Missense_Mutation_p.R289L|WNK2_uc004atj.3_Missense_Mutation_p.R289L|WNK2_uc010mrc.1_Missense_Mutation_p.R289L|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	289	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TACCTGAAGCGGTTCAAGGTG	0.622000														5			20		1.15919e-05	0.000102395	0.00121646	1	0
SSBP2	23635	broad.mit.edu	37	5	80762838	80762838	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr5:80762838G>T	uc003khp.3	-	8	828	c.617C>A	c.(616-618)cCc>cAc	p.P206H	SSBP2_uc003khn.3_Missense_Mutation_p.P72H|SSBP2_uc011ctr.2_Missense_Mutation_p.P168H|SSBP2_uc003kho.3_Missense_Mutation_p.P198H|SSBP2_uc011ctp.2_Missense_Mutation_p.P178H|SSBP2_uc011ctq.2_Missense_Mutation_p.P176H	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	198	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ATTCAGTGGGGGTCTCATTGC	0.393000														27			13		1.15088e-07	1.05166e-06	0.000422831	1	0
POLA2	23649	broad.mit.edu	37	11	65036175	65036175	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr11:65036175T>A	uc001odj.3	+	3	661	c.329T>A	c.(328-330)tTg>tAg	p.L110*	POLA2_uc009yqf.1_Nonsense_Mutation_p.L110*|POLA2_uc010rod.1_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	110					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GAAATCCTCTTGAACTCTTAC	0.373000														16			13		0	0	0.00074312	0	0
ZNF462	58499	broad.mit.edu	37	9	109689800	109689800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr9:109689800C>T	uc004bcz.3	+	2	3896	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R1051W|ZNF462_uc004bda.3_Missense_Mutation_p.R1051W	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTATGGGAACCGGACGGTCAA	0.527000														122			162		0	0	0.000781405	0	0
GLRB	2743	broad.mit.edu	37	4	158059985	158059985	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr4:158059985G>A	uc003ipj.2	+	6	837	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	GLRB_uc021xtp.1_Missense_Mutation_p.R212Q|GLRB_uc021xtq.1_Missense_Mutation_p.R212Q	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	212					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GATGATTTACGATTTATCTGG	0.259000														71			13		0	0	0.000308642	0	0
ASMT	438	broad.mit.edu	37	X	1746653	1746653	+	Silent	SNP	G	A	A			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chrX:1746653G>A	uc004cqd.3	+	4	648	c.432G>A	c.(430-432)acG>acA	p.T144T	ASMT_uc010ncy.3_Silent_p.T144T|ASMT_uc004cqe.3_Silent_p.T144T	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	144					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTTTTTACGGCCATCTACA	0.393000														190			11		0	0	0.000219431	0	0
CTSG	1511	broad.mit.edu	37	14	25043625	25043625	+	Silent	SNP	C	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr14:25043625C>T	uc001wpq.3	-	3	457	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	140	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.T140T(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612000														34			14		0	0	0.000422831	0	0
C1orf173	127254	broad.mit.edu	37	1	75055422	75055422	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr1:75055422T>G	uc001dgg.3	-	11	2288	c.2069A>C	c.(2068-2070)aAa>aCa	p.K690T	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.K484T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	690	Glu-rich.							p.G689G(1)|p.G689W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAACATGTTTCCCGGACTT	0.453000														72			66		0	0	0.000781405	0	0
RQCD1	9125	broad.mit.edu	37	2	219447748	219447748	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr2:219447748T>C	uc010zkh.2	+	2	259	c.259T>C	c.(259-261)Tct>Cct	p.S87P	RQCD1_uc002vih.1_Missense_Mutation_p.S87P|RQCD1_uc010zki.2_Missense_Mutation_p.S87P	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	87					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.S87C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACACCAGTCTAACAGAGT	0.388000														41			17		0	0	0.000375601	0	0
TMC3	342125	broad.mit.edu	37	15	81625347	81625347	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr15:81625347C>G	uc021ssk.1	-	21	2716	c.2716G>C	c.(2716-2718)Gaa>Caa	p.E906Q	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	906						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AAATGTCTTTCTGGCCAGACA	0.522000														44			17		0	0	0.000958276	0	0
LILRB4	11006	broad.mit.edu	37	19	55176302	55176302	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr19:55176302T>G	uc002qgp.3	+	5	1068	c.706_splice	c.e5+2	p.A236_splice	LILRB4_uc002qgq.3_Splice_Site_p.A236_splice|LILRB4_uc010ers.1_Silent_p.G149G|LILRB4_uc010ert.3_Splice_Site_p.A277_splice|LILRB4_uc010eru.3_Splice_Site_p.A265_splice	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	236						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAACAGCTGGTGAGTCTCAGA	0.572000														9			12		0	0	0.000978159	0	0
NPHP3	27031	broad.mit.edu	37	3	132440872	132440873	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr3:132440872_132440873delAC	uc003epe.2	-	0	431_432	c.327_328delGT	c.(325-330)ttgttgfs	p.L109fs	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	109					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCATGGACAACAACTCCTGGT	0.673													---	36	---	---	13	---					
NOL8	55035	broad.mit.edu	37	9	95072931	95072932	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr9:95072931_95072932insT	uc022bjx.1	-	8	2835_2836	c.2498_2499insA	c.(2497-2499)aagfs	p.K833fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Ins_p.K765fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	833					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TATCAAACAGCTTCCCTGATGT	0.396													---	61	---	---	27	---					
SIPA1	6494	broad.mit.edu	37	11	65414446	65414446	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr11:65414446delG	uc001ofb.2	+	7	2108	c.1941delG	c.(1939-1941)ctgfs	p.L647fs	SIPA1_uc010rom.1_Frame_Shift_Del_p.L545fs|SIPA1_uc001ofd.2_Frame_Shift_Del_p.L647fs|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	647					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCAGCAGCTGGACCTGTACC	0.721													---	4	---	---	2	---					
MYO19	80179	broad.mit.edu	37	17	34883406	34883407	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A1ZU-06A-12D-A196-08	TCGA-FS-A1ZU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe8c62a6-c113-46e8-ab91-fdb90bb6a59f	7a49b1e5-5fb7-4a7e-85ba-f4c357089023	g.chr17:34883406_34883407delCT	uc010wcy.2	-	5	1267_1268	c.275_276delAG	c.(274-276)gagfs	p.E92fs	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Frame_Shift_Del_p.E92fs|MYO19_uc010wcz.1_Non-coding_Transcript|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Frame_Shift_Del_p.E92fs	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	92	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGCATGGTACTCTCTCATTAG	0.579													---	20	---	---	15	---