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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PPP1R9A	55607	broad.mit.edu	37	7	94915636	94915636	+	Splice_Site	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:94915636A>G	ENST00000289495.5	+	16	3710	c.3495_splice	c.e16+1	p.E1165_splice	PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.E959_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.E959_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	959						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCATCAGATGAGGTAATTCCA	0.463000										HNSCC(28;0.073)			10	46					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137271550	137271550	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:137271550T>A	ENST00000508638.1	+	11	1488	c.1433T>A	c.(1432-1434)aTg>aAg	p.M478K	PKD2L2_ENST00000290431.5_Missense_Mutation_p.M579K|PKD2L2_ENST00000508883.1_Missense_Mutation_p.M579K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M557K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M545K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	579						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTATTCTATGGAAATTCAA	0.388000													13	77					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49138814	49138814	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49138814T>C	ENST00000306125.6	-	10	1187	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Missense_Mutation_p.I273V|QARS_ENST00000420147.2_Missense_Mutation_p.H273R			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	284					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTGAAATTGATGGCTTTGGCA	0.478000													17	34					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6687075	6687075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:6687075T>C	ENST00000309577.6	-	36	5484	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD4_ENST00000357008.2_Missense_Mutation_p.Y1746C|CHD4_ENST00000544040.1_Missense_Mutation_p.Y1739C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y1771C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1746	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCACCGGGCATAGCCATGGCT	0.438000													22	78					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999449	22999449	+	Silent	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:22999449C>G	ENST00000313077.7	+	29	3446	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P	CYFIP1_ENST00000435939.2_Silent_p.P676P|CYFIP1_ENST00000560848.1_Silent_p.P1107P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1107					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGATGACCCCATCTGGCGCG	0.582000													13	41					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123383035	123383035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:123383035C>T	ENST00000360772.3	-	24	4280	c.3902G>A	c.(3901-3903)cGc>cAc	p.R1301H	MYLK_ENST00000354792.5_Missense_Mutation_p.R101H|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301H|MYLK_ENST00000475616.1_Missense_Mutation_p.R1301H|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232H|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301H			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCTCCTGGCGCGCGGCCAG	0.627000													63	151					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113195	18113195	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:18113195C>T	ENST00000403915.1	+	3	1371	c.920C>T	c.(919-921)tCg>tTg	p.S307L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.S307L			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	307					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCCGGCACTCGGTAGGACTT	0.502000													28	83					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98995265	98995265	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:98995265A>T	ENST00000188376.5	+	7	1399	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	SLC25A3_ENST00000549338.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M312L|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M349L|SLC25A3_ENST00000228318.3_Missense_Mutation_p.M350L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M350L	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	350					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCACCCGAGATGCCAGAGTC	0.463000													11	40					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	41					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117515	99117515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:99117515C>T	ENST00000394170.2	+	4	870	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L207F|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L207F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCTTCACTTCTCTCAACTGG	0.527000													11	48					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23596158	23596158	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:23596158C>T	ENST00000305877.8	+	2	2203	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	BCR_ENST00000359540.3_Silent_p.S484S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	484					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGGAGTCCACTAAAGCGG	0.647000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	23					0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50060443	50060443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:50060443G>A	ENST00000391853.3	-	6	473	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	NOSIP_ENST00000596358.1_Nonsense_Mutation_p.Q108*|NOSIP_ENST00000339093.3_Nonsense_Mutation_p.Q108*	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACATGGTCCTGCGAGGCCGCC	0.682000													9	10					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458648	232458648	+	Missense_Mutation	SNP	G	G	A	rs140125501		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:232458648G>A	ENST00000313965.2	+	1	1074	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	329										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CCCAGCTTGCGCTCGGTCCCC	0.667000													19	86					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45009511	45009511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:45009511G>C	ENST00000415811.2	+	4	337	c.282G>C	c.(280-282)agG>agC	p.R94S	GOSR2_ENST00000575949.1_Missense_Mutation_p.R94S|GOSR2_ENST00000393456.2_Missense_Mutation_p.R94S|GOSR2_ENST00000225567.4_Missense_Mutation_p.R94S|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R94S|GOSR2_ENST00000439730.2_Missense_Mutation_p.R94S|GOSR2_ENST00000576910.2_Missense_Mutation_p.R94S	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	94					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GCCATGCAAGGGAGCAGCAGG	0.552000													28	122					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406592	55406592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:55406592G>T	ENST00000314612.2	+	1	759	c.759G>T	c.(757-759)ttG>ttT	p.L253F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACCTGCATTGTTCATTTACA	0.418000													34	62					6.2361e-21	6.83002e-21	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40041631	40041631	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:40041631A>G	ENST00000324616.5	+	6	576	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	C12orf40_ENST00000398716.1_Missense_Mutation_p.Q64R|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q141R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	141										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTCACCCTCAGTTCAGCAAA	0.333000													7	22					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533500	145533500	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:145533500C>T	ENST00000369304.3	+	12	1558	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ITGA10_ENST00000538811.1_Silent_p.I330I|ITGA10_ENST00000539363.1_Silent_p.I318I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	461					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAAAGTCATCGCCTTCCAGC	0.562000													23	39					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630167	11630167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:11630167C>T	ENST00000423059.3	-	4	1624	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	458	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCTGGATGCCCCCTCCACA	0.547000										HNSCC(18;0.044)			15	36					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892523	37892523	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:37892523G>A	ENST00000403299.1	-	14	2208	c.1992C>T	c.(1990-1992)gcC>gcT	p.A664A	CARD10_ENST00000406271.3_Silent_p.A378A|CARD10_ENST00000251973.5_Silent_p.A664A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	664					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGGCCTCGGCTTCCAGGC	0.612000													15	39					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111927000	111927000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:111927000C>G	ENST00000421043.1	+	2	184	c.164C>G	c.(163-165)tCt>tGt	p.S55C	ZNF277_ENST00000361822.3_Missense_Mutation_p.S55C|ZNF277_ENST00000450657.1_Missense_Mutation_p.S55C			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	55						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTAGAAGGTTCTCCATCTGTG	0.408000													15	46					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454620	53454620	+	Silent	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:53454620A>T	ENST00000357666.4	-	5	708	c.408T>A	c.(406-408)acT>acA	p.T136T	ZNF816_ENST00000444460.2_Silent_p.T136T|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTGTACTACCAGTCAACTTTT	0.408000													51	129					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910754	59910754	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59910754T>C	ENST00000396065.1	+	3	765	c.317T>C	c.(316-318)cTc>cCc	p.L106P	GCNT3_ENST00000560585.1_Missense_Mutation_p.L106P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	106					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCTCTCCCTCACCAGAGAC	0.502000													23	45					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372233	34372233	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:34372233T>C	ENST00000297625.7	-	2	832	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	237					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTGACTTTGATGGCGGCCGCG	0.657000													5	20					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976214	46976214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:46976214C>T	ENST00000371956.4	+	2	251	c.236C>T	c.(235-237)aCg>aTg	p.T79M	DMBX1_ENST00000360032.3_Missense_Mutation_p.T74M	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	79	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAGCGTTCACGGCTCAGCAG	0.577000													10	41					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622519	30622519	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30622519G>A	ENST00000376442.3	-	19	3156	c.2961C>T	c.(2959-2961)caC>caT	p.H987H	DHX16_ENST00000376437.5_Silent_p.H506H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	987					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AGACAAGTTCGTGGTAGAGCA	0.537000													40	56					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77847776	77847776	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:77847776A>G	ENST00000407578.2	-	5	1042	c.776T>C	c.(775-777)aTc>aCc	p.I259T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I221T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I221T|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCGAACGGTGATTTCCAAAAG	0.388000													19	53					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216177193	216177193	+	Translation_Start_Site	SNP	T	T	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:216177193T>G	ENST00000435675.1	+	0	380				ATIC_ENST00000236959.9_Intron|ATIC_ENST00000540518.1_Intron			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase						IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTGCTGCGAATCATGAGAAAA	0.507000			T	ALK	ALCL								22	73					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59500990	59500990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59500990C>T	ENST00000288235.4	-	14	1819	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	474	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCCCCCTCACCCACCGCATGC	0.537000													23	62					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914135	28914135	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr18:28914135A>G	ENST00000257192.4	+	8	1187	c.975A>G	c.(973-975)agA>agG	p.R325R		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	325	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATGAAAGAACAAATGTGG	0.264000													19	26					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	83					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117583968	117583968	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:117583968T>C	ENST00000427718.2	-	12	1864	c.1790A>G	c.(1789-1791)tAt>tGt	p.Y597C	FBXO21_ENST00000330622.5_Missense_Mutation_p.Y604C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	604					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATCTTCTGGATACCGGATCTC	0.453000													13	51					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	15					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929166	23929166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:23929166C>T	ENST00000382298.3	-	8	2173	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.D529N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	529					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGATAACATCAACTGACAAG	0.453000													30	56					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706656	128706656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:128706656T>C	ENST00000265068.5	-	4	637	c.470A>G	c.(469-471)cAc>cGc	p.H157R	KIAA1257_ENST00000511438.1_Missense_Mutation_p.H157R|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.H45R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	157										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTCACCTTCGTGCCACGGCTT	0.468000													5	11					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47579544	47579544	+	Translation_Start_Site	SNP	C	C	A	rs145359531	byFrequency	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:47579544C>A	ENST00000504201.1	+	0	379				NGFR_ENST00000172229.3_Silent_p.T62T			P08138	TNR16_HUMAN	nerve growth factor receptor						anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCAGACCGTGTGTGAGC	0.652000													22	57					1.50039e-11	1.61257e-11	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039336	184039336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:184039336G>A	ENST00000342981.4	+	9	1378	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	EIF4G1_ENST00000319274.6_Missense_Mutation_p.E322K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E235K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E322K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E235K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E158K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E329K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E158K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	322					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTCTCGCCGAACCCATACT	0.507000													24	46					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532324	84532324	+	RNA	SNP	A	A	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:84532324A>C	ENST00000527857.1	+	0	2346					NR_026851.1																						TCCATGGAGAATGTGGGGAAT	0.473000													16	40					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517488	75517488	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:75517488G>T	ENST00000318622.4	+	5	1122	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	RHBDD2_ENST00000006777.6_Missense_Mutation_p.V306L|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.V165L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	306						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CCTGTGCTATGTGCAGAACCA	0.667000													56	188					1.61742e-36	1.82356e-36	1	1	0
KIAA0408	9729	broad.mit.edu	37	6	127767859	127767859	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:127767859A>G	ENST00000483725.3	-	5	1941	c.1605T>C	c.(1603-1605)aaT>aaC	p.N535N	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	535							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CGTGGAGCATATTTCGATAAC	0.483000													19	19					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017688	161017688	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:161017688G>A	ENST00000368013.3	-	12	3443	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	ARHGAP30_ENST00000368016.3_Silent_p.A830A|ARHGAP30_ENST00000368015.1_Silent_p.A864A	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1041					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGAGAATGGGCAGAGATCA	0.592000													17	64					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84362496	84362496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:84362496C>T	ENST00000295488.3	-	7	1786	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	HELQ_ENST00000510985.1_Missense_Mutation_p.E475K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	542							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGCCATTCTCAGCTTTGCTG	0.313000								Other identified genes with known or suspected DNA repair function					4	21					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56820470	56820470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:56820470G>T	ENST00000257287.4	+	4	517	c.393G>T	c.(391-393)ttG>ttT	p.L131F	CEP135_ENST00000422247.2_Missense_Mutation_p.L131F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	131					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAAACTGTTGGAGAAAGAGA	0.343000													3	38					1	1	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114069466	114069466	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:114069466G>C	ENST00000462705.1	-	11	2061	c.1240C>G	c.(1240-1242)Ctg>Gtg	p.L414V	ZBTB20_ENST00000481632.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L487V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L414V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L414V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCATCCTCAGGTTGCTGGTG	0.592000													23	65					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105195584	105195584	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:105195584G>C	ENST00000257700.2	+	11	1812	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	527	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAAGAAGAGACTAGAGCTT	0.403000													29	96					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632000													49	246					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517140	192517140	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:192517140T>C	ENST00000392452.2	-	2	831	c.511A>G	c.(511-513)Atc>Gtc	p.I171V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	171										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCACCATTGATGTGATCTACA	0.478000													27	61					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647732	92647732	+	Silent	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:92647732G>T	ENST00000318445.6	+	4	1183	c.969G>T	c.(967-969)ctG>ctT	p.L323L	SLCO3A1_ENST00000424469.2_Silent_p.L323L|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	323					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACCCCCTGGAGCCAGACA	0.612000													18	43					1.87028e-06	1.93768e-06	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21943975	21943975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:21943975G>A	ENST00000542643.2	-	8	417	c.115C>T	c.(115-117)Cga>Tga	p.R39*	RAP1GAP_ENST00000374763.2_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000374765.4_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000290101.4_Nonsense_Mutation_p.R103*|RAP1GAP_ENST00000374761.2_Nonsense_Mutation_p.R70*	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	39					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGTCCTTCTCGCCCCAAGACC	0.627000													7	11					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6478168	6478168	+	Nonsense_Mutation	SNP	G	G	T	rs146874288		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:6478168G>T	ENST00000525074.1	-	6	1182	c.788C>A	c.(787-789)tCg>tAg	p.S263*	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.S263*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.S144*|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.S263*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	263					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCGGGGCCGAGCCCAGGCG	0.642000													23	58					1.22574e-08	1.28145e-08	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39878721	39878721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:39878721G>T	ENST00000303538.8	-	19	2584	c.2045C>A	c.(2044-2046)tCc>tAc	p.S682Y		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	682					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGTAACAAGGACTCATATGT	0.398000													27	117					2.24059e-21	2.50163e-21	1	1	0
RNF123	63891	broad.mit.edu	37	3	49736208	49736208	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49736208C>T	ENST00000327697.6	+	9	735	c.591C>T	c.(589-591)atC>atT	p.I197I	RNF123_ENST00000432042.1_Silent_p.I51I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	197	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGGGGGACATCGTGAGCTGCC	0.612000													15	27					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662469	77662469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:77662469G>A	ENST00000296043.6	+	5	4096	c.3143G>A	c.(3142-3144)cGt>cAt	p.R1048H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1048					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATGGGATGCGTTTCCCGGAG	0.667000													5	28					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75702549	75702549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:75702549C>T	ENST00000394947.3	-	7	1401	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	SIN3A_ENST00000360439.4_Missense_Mutation_p.A363T|SIN3A_ENST00000394949.4_Missense_Mutation_p.A363T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	363	Interaction with REST (By similarity).|PAH 2.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAGAGACGAGCAACCTGGGCA	0.428000													7	96					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30457340	30457340	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30457340C>T	ENST00000376630.4	+	1	97	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	11					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTACTCCTCTCGGAGGCCCTG	0.637000													61	57					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50258846	50258846	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:50258846A>G	ENST00000357464.3	+	10	1271	c.1271A>G	c.(1270-1272)tAt>tGt	p.Y424C	PAPD5_ENST00000436909.3_Missense_Mutation_p.Y503C|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Missense_Mutation_p.Y393C			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	424					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GTTGCCACATATAGAGATTGG	0.378000													40	114					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111214770	111214770	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:111214770A>G	ENST00000368885.3	+	9	1292	c.956A>G	c.(955-957)aAt>aGt	p.N319S	AMD1_ENST00000368877.5_Missense_Mutation_p.N290S|AMD1_ENST00000451850.2_Missense_Mutation_p.N199S|AMD1_ENST00000368882.3_Missense_Mutation_p.N171S|AMD1_ENST00000368876.1_Missense_Mutation_p.N250S	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	319					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AATGATTACAATTTTGTTTTT	0.393000													19	62					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2259554	2259554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:2259554C>A	ENST00000562360.1	-	5	591	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	BRICD5_ENST00000328540.3_Splice_Site_p.G198_splice					BRICHOS domain containing 5																		CCTGACTCACCCTCTGCTCGC	0.701000													35	135					4.62619e-21	5.1155e-21	1	1	0
SP110	3431	broad.mit.edu	37	2	231042314	231042314	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:231042314G>A	ENST00000258381.6	-	14	1607	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	SP110_ENST00000358662.4_Silent_p.N510N|SP110_ENST00000540870.1_Silent_p.N516N|SP110_ENST00000338556.3_Silent_p.N212N|SP110_ENST00000392048.3_Silent_p.N508N|SP110_ENST00000258382.5_Silent_p.N510N	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTCTTTGCGTTCCTTCCTT	0.423000													65	217					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890056	88890056	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:88890056T>C	ENST00000303236.3	-	6	1371	c.1070A>G	c.(1069-1071)gAt>gGt	p.D357G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D206G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	357					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACTTGTATCATCAAAAAGACT	0.358000													7	39					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33586550	33586550	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:33586550C>T	ENST00000404816.2	+	28	4591	c.4238C>T	c.(4237-4239)tCa>tTa	p.S1413L	LTBP1_ENST00000390003.4_Missense_Mutation_p.S1088L|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1045L|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1414L|LTBP1_ENST00000272273.5_Missense_Mutation_p.S311L|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1032L|LTBP1_ENST00000404525.1_Missense_Mutation_p.S1034L|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1087L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1413					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGGAGAATCATCTTCTGAA	0.373000													5	61					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858933	105858933	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:105858933G>A	ENST00000258456.1	+	1	734	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	206						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGTTCTTCGCGCCCTTTGGCG	0.677000													12	20					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43906597	43906597	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:43906597A>C	ENST00000314537.5	+	5	569	c.344A>C	c.(343-345)cAc>cCc	p.H115P	CRHR1_ENST00000577353.1_Missense_Mutation_p.H115P|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Missense_Mutation_p.H14P|CRHR1_ENST00000398285.3_Missense_Mutation_p.H115P|CRHR1_ENST00000352855.5_Missense_Mutation_p.H75P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	115					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGCAAGGTGCACTACCATGTC	0.577000													5	20					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600355	131600355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:131600355C>T	ENST00000436267.2	-	7	844	c.695G>A	c.(694-696)cGt>cAt	p.R232H	CCBL1_ENST00000302586.3_Missense_Mutation_p.R138H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R88H			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	138					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAACACAGGACGACCCCCTGC	0.542000													57	173					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436634	25436634	+	RNA	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:25436634C>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1																						AATAGGATTACGCTGAGGCCC	0.512000													8	445					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750313	94750313	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:94750313T>C	ENST00000554723.1	-	5	1862	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SERPINA10_ENST00000554173.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000393096.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000261994.4_Missense_Mutation_p.T442A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	442					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TATAGGAGAGTCGGATTCACC	0.473000													4	45					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113524756	113524756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:113524756T>C	ENST00000505019.1	-	10	3025	c.2900A>G	c.(2899-2901)gAt>gGt	p.D967G	C4orf21_ENST00000309071.5_Missense_Mutation_p.D967G	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	967										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCAGTGCTATCTGGAAACTG	0.408000													19	46					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016930	25016930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:25016930C>A	ENST00000400382.1	+	9	1381	c.626C>A	c.(625-627)aCc>aAc	p.T209N	GGT1_ENST00000406383.2_Missense_Mutation_p.T209N|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.T209N|GGT1_ENST00000400380.1_Missense_Mutation_p.T209N|GGT1_ENST00000400383.1_Missense_Mutation_p.T209N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GAGAGACTGACCCTGCCGCAG	0.632000													9	17					5.16669e-11	5.50156e-11	1	1	0
H1FX	8971	broad.mit.edu	37	3	129034308	129034308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:129034308C>G	ENST00000333762.4	-	1	812	c.438G>C	c.(436-438)aaG>aaC	p.K146N	H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	146					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						ccggggcTGCCTTCTTCGCTT	0.761000													3	5					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597000			T	BCL6	NHL								28	73					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147831	82147831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:82147831G>A	ENST00000550584.2	-	2	465	c.170C>T	c.(169-171)tCa>tTa	p.S57L	PPFIA2_ENST00000549325.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S57L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S57L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	316										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTGGGCAAGTGAGAGGCTTTC	0.517000													7	25					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25729191	25729191	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:25729191C>A	ENST00000349320.3	-	5	722	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	RHCE_ENST00000294413.7_Missense_Mutation_p.G128C|RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	128						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACAGCACCCGCTGAGATC	0.552000													21	75					1.10923e-09	1.17029e-09	1	1	0
SLC52A1	55065	broad.mit.edu	37	17	4936394	4936394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:4936394C>T	ENST00000424747.1	-	5	1917	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G402D|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	402						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCGACCCCCACCATGCAGCAG	0.622000													51	40					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211127	38211127	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:38211127A>T	ENST00000379705.3	-	11	3704	c.2847T>A	c.(2845-2847)caT>caA	p.H949Q	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.H865Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H776Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.H808Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.H776Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H800Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H808Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H954Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	949	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTCTTTTGCATGTTTCTCCT	0.463000													18	48					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776736	159776736	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:159776736G>A	ENST00000393975.3	-	3	435	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	99						collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATGGCCCCGGCTTTGCCCT	0.657000													19	57					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38218436	38218436	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:38218436A>G	ENST00000407257.1	+	7	1622	c.1475A>G	c.(1474-1476)tAt>tGt	p.Y492C	RMDN2_ENST00000234195.3_Missense_Mutation_p.Y492C|RMDN2_ENST00000354545.2_Missense_Mutation_p.Y314C|RMDN2_ENST00000417700.2_Missense_Mutation_p.Y169C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.Y314C					regulator of microtubule dynamics 2																		AGATACTGCTATACTGTAAGT	0.299000													18	37					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839353	233839353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:233839353C>T	ENST00000264051.3	-	2	526	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	83	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTGGCGTTCCGTTCGGGGTT	0.502000													64	166					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245858	46245858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:46245858C>T	ENST00000334344.6	+	15	4124	c.3952C>T	c.(3952-3954)Cag>Tag	p.Q1318*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q928*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1169*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1318					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1318*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGACTAATCAGTGCTCACT	0.393000			"""N, S, F"""		hepatocellular carcinoma								15	34					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33272960	33272960	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:33272960T>C	ENST00000434618.2	-	4	1019	c.674A>G	c.(673-675)aAt>aGt	p.N225S	TAPBP_ENST00000489157.1_Missense_Mutation_p.N138S|TAPBP_ENST00000475304.1_Missense_Mutation_p.N243S|TAPBP_ENST00000456592.2_Missense_Mutation_p.N225S|TAPBP_ENST00000426633.2_Missense_Mutation_p.N225S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	225					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CATCTGGCCATTCAGCCCAGG	0.627000													22	70					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422963	42422963	+	Silent	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422963A>T	ENST00000328823.9	+	6	739	c.708A>T	c.(706-708)ctA>ctT	p.L236L	WBP2NL_ENST00000543212.1_Silent_p.L162L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTAGGATATGGAG	0.602000													50	294					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158093959	158093959	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:158093959G>A	ENST00000359775.5	+	9	2161	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	ZDHHC14_ENST00000414563.2_Silent_p.A409A|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	424						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCACGCTCGCGGACGTGATGC	0.741000													6	5					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45639847	45639847	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:45639847A>G	ENST00000267430.5	+	12	2143	c.2058A>G	c.(2056-2058)aaA>aaG	p.K686K	FANCM_ENST00000542564.2_Silent_p.K660K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	686					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAATTTAAATTATGGAACA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	24					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46587863	46587863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:46587863C>T	ENST00000263734.3	+	5	1051	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	181					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAACAGAGGCCGTACTGTCAA	0.552000													23	36					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422962	42422962	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422962T>C	ENST00000328823.9	+	6	738	c.707T>C	c.(706-708)cTa>cCa	p.L236P	WBP2NL_ENST00000543212.1_Missense_Mutation_p.L162P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GCCCCACCTCTAGGATATGGA	0.597000													23	324					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18208525	18208525	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:18208525C>G	ENST00000321105.5	-	5	614	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E39Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	134	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTCTCTCGTTCCAAAGTTTTC	0.468000													40	21					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62253878	62253878	+	Missense_Mutation	SNP	T	T	C	rs114138011	by1000genomes	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:62253878T>C	ENST00000261517.5	-	35	3891	c.3818A>G	c.(3817-3819)aAt>aGt	p.N1273S	VPS13C_ENST00000395896.4_Missense_Mutation_p.N1273S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1230S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1230S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1273					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGAACTGATTATGAACTCT	0.383000													24	72					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000972	204000972	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:204000972A>G	ENST00000449802.1	+	27	4632	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1433							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGAAAGCCAAGAGGTAAAAT	0.328000													6	29					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170725847	170725847	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:170725847C>T	ENST00000523189.1	+	28	3416	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1084					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGCAGTCTCGACATGATGA	0.507000			T	TRD@	ALL								13	23					0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133540115	133540115	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:133540115C>T	ENST00000253008.2	+	1	135	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGGCGCTGGCCGAGGTTATCA	0.706000													6	20					0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37842132	37842132	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:37842132A>G	ENST00000242323.7	+	3	774	c.700A>G	c.(700-702)Ata>Gta	p.I234V	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.I234V			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	234						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACACTACAATAGCACTATG	0.363000													13	56					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35704667	35704667	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:35704667T>A	ENST00000314888.9	-	44	6232	c.5880_splice	c.e44+1	p.K1960_splice	TLN1_ENST00000540444.1_Splice_Site_p.K1854_splice|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1960					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCGTCACCTTCTCAGAGAC	0.597000													25	86					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63548721	63548721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:63548721C>A	ENST00000374852.3	-	12	1479	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	471	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGAGGGTTCCTGAAGTCTGG	0.388000													14	9					1.52009e-12	1.64916e-12	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79852968	79852968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:79852968C>A	ENST00000360280.3	+	18	1906	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.S549*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.S549*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.S549*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	549					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGATAATTCAGAAAAACCC	0.328000													9	44					0.335167	0.338107	1	1	0
C2orf54	79919	broad.mit.edu	37	2	241835040	241835040	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:241835040G>A	ENST00000388934.4	-	1	533	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	125										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTATCCTCGGTGGTCCACC	0.617000													7	27					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607830	8607830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:8607830G>A	ENST00000382480.2	+	5	1213	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R264H|CPZ_ENST00000360986.4_Missense_Mutation_p.R275H	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	275	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTAACCCCCGCATCCAGCGC	0.617000													10	48					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066678	106066678	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:106066678C>T	ENST00000357242.5	+	5	983	c.809C>T	c.(808-810)cCt>cTt	p.P270L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270L|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	270						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTATAATCCTCTACAGATC	0.308000													18	19					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	422318	422318	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:422318T>A	ENST00000399788.2	-	20	3302	c.2940A>T	c.(2938-2940)gaA>gaT	p.E980D	KDM5A_ENST00000382815.4_Missense_Mutation_p.E980D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	980					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTCTTGGCTTCATTCACAA	0.398000			T	NUP98	AML								21	45					0	0	1	0	0
MAFA	389692	broad.mit.edu	37	8	144511954	144511959	+	In_Frame_Del	DEL	TGGTGG	TGGTGG	-			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr8:144511954_144511959delTGGTGG	ENST00000333480.2	-	1	617_622	c.618_623delCCACCA	c.(616-624)cat>ca	p.HHH206del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	206	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggtggt	0.748										HNSCC(29;0.082)			3	3	---	---	---	---					
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:57365774_57365776delCTG	ENST00000403558.1	+	1	499_501	c.133_135delCTG	c.(133-135)del	p.L49del	SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578519	7578522	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:7578519_7578522delCAGT	ENST00000420246.2	-	5	540_543	c.408_411delACTG	c.(406-411)cafs	p.QL136fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.QL136fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L137L(6)|p.Q136H(5)|p.Q136Q(4)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.L137P(3)|p.A138fs*11(3)|p.L137Q(2)|p.L137M(2)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.A6_P10delAKTCP(1)|p.L137V(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGTCTTGGCCAGTTGGCAAAACA	0.564		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)			34	30	---	---	---	---