Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAGTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18943.hp1 HG04199.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0170 a0001c0002t0003g0138 a0001c0002t0003g0170	2	285	0.0070	19	c.139 others(36): Show c.139-2083_139-2082insAAAAAAACTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32619091	T T	TATTTCAG others(12): Show TATTTCAGAACATTCTGAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	332	0.0030	19	c.-19 others(38): Show c.-19-29662_-19-29661insTTTCAGAACATTCTGAAAA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0299 a0001c0001t0031g0299	1	117	0.0085	19	c.313 others(36): Show c.313-2864_313-2863insATATATATATATATATTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0300 a0001c0001t0007g0300	1	117	0.0085	19	c.313 others(36): Show c.313-2864_313-2863insATATATATATATTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02735.hp2 HG00408.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0175 a0001c0002t0002g0274 a0001c0001t0003g0175 a0001c0002t0002g0274	2	213	0.0094	19	c.313 others(36): Show c.313-2864_313-2863insATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02074.hp2 HG02080.hp1 others(3): Show HG01109.hp1 HG02074.hp2 HG02080.hp1 HG04199.hp2 NA18942.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0205 a0001c0001t0001g0210	6	65	0.0923	19	c.163 others(34): Show c.163-593_163-575dupAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	57	0.0175	19	c.104 others(40): Show c.1042-18814_1042-18796dupTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0093 a0001c0001t0010g0093	1	107	0.0093	19	c.296 others(38): Show c.296+29088_296+29089insATATATATTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	107	0.0093	19	c.296 others(38): Show c.296+29088_296+29089insATATATATATATTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03225.hp2 HG01167.hp2 HG01169.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0016 a0001c0001t0005g0232 a0001c0001t0006g0231 a0001c0001t0003g0016 a0001c0001t0005g0232 a0001c0001t0006g0231	3	77	0.0390	19	c.296 others(34): Show c.296+559_296+577dupTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984496	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19082.hp1 NA18942.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0003 a0002c0002t0001 a0002c0004t0003	a0002c0002t0001g0074 a0002c0004t0003g0058 a0002c0002t0001g0074 a0002c0004t0003g0058	2	243	0.0082	19	c.21+ others(34): Show c.21+9276_21+9277insATATATATATATATATATA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22			chr16	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02647.hp2 others(7): Show HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03486.hp2 NA18906.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0009	a0001c0001 a0001c0007 a0001c0035 others(6): Show a0001c0001 a0001c0007 a0001c0035 a0001c0050 a0001c0053 a0004c0006 a0005c0009 a0007c0013 a0009c0014	a0001c0001t0001 a0001c0007t0009 a0001c0007t0047 others(7): Show a0001c0001t0001 a0001c0007t0009 a0001c0007t0047 a0001c0035t0039 a0001c0050t0036 a0001c0053t0001 a0004c0006t0007 a0005c0009t0009 a0007c0013t0001 a0009c0014t0001	a0001c0001t0001g0070 a0001c0007t0009g0181 a0001c0007t0047g0035 others(7): Show a0001c0001t0001g0070 a0001c0007t0009g0181 a0001c0007t0047g0035 a0001c0035t0039g0209 a0001c0050t0036g0187 a0001c0053t0001g0215 a0004c0006t0007g0074 a0005c0009t0009g0102 a0007c0013t0001g0200 a0009c0014t0001g0043	10	173	0.0578	19	c.476 others(38): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp2 NA20300.hp2 HG03041.hp1 HG03139.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0053 a0007c0013 a0001c0001 a0001c0053 a0007c0013	a0001c0001t0001 a0001c0053t0001 a0007c0013t0004 a0001c0001t0001 a0001c0053t0001 a0007c0013t0004	a0001c0001t0001g0079 a0001c0053t0001g0215 a0007c0013t0004g0198 a0001c0001t0001g0079 a0001c0053t0001g0215 a0007c0013t0004g0198	3	6	0.5000	19	c.476 others(38): Show c.476+78837_476+78855dupTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG03486.hp1 others(1): Show HG01255.hp1 HG02451.hp1 HG03486.hp1 HG04184.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0009c0014	a0001c0001t0001 a0002c0002t0001 a0004c0006t0007 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0006t0007 a0009c0014t0004	a0001c0001t0001g0106 a0002c0002t0001g0159 a0004c0006t0007g0063 others(1): Show a0001c0001t0001g0106 a0002c0002t0001g0159 a0004c0006t0007g0063 a0009c0014t0004g0062	4	25	0.1600	19	c.477 others(38): Show c.477-13638_477-13620dupAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969531	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0163 a0003c0004t0011g0163	1	214	0.0047	19	c.477 others(38): Show c.477-13620_477-13619insAAAAAAAAAAAAAACAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp2 NA19090.hp2 HG02280.hp2 HG03139.hp2 NA19090.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0053 a0002c0063 a0006c0015 a0001c0053 a0002c0063 a0006c0015	a0001c0053t0001 a0002c0063t0002 a0006c0015t0040 a0001c0053t0001 a0002c0063t0002 a0006c0015t0040	a0001c0053t0001g0215 a0002c0063t0002g0129 a0006c0015t0040g0213 a0001c0053t0001g0215 a0002c0063t0002g0129 a0006c0015t0040g0213	3	28	0.1071	19	c.140 others(40): Show c.1408-11630_1408-11612dupTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18965.hp2 HG00597.hp2 NA18965.hp2	a0002 a0002	a0002c0010 a0002c0011 a0002c0010 a0002c0011	a0002c0010t0003 a0002c0011t0001 a0002c0010t0003 a0002c0011t0001	a0002c0010t0003g0256 a0002c0011t0001g0261 a0002c0010t0003g0256 a0002c0011t0001g0261	2	267	0.0075	19	c.152 others(36): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73402941	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0006 a0004c0016t0006	a0004c0016t0006g0024 a0004c0016t0006g0024	1	38	0.0263	19	c.116 others(38): Show c.1166+1188_1166+1206dupAAAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	4/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73489575	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0215 a0001c0005t0002g0215	1	3	0.3333	19	c.919 others(38): Show c.919-85181_919-85180insAAAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	175	0.0057	19	c.918 others(38): Show c.918+39340_918+39341insATATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	175	0.0057	19	c.918 others(38): Show c.918+39340_918+39341insAAATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0004 a0001c0007t0002g0004	1	175	0.0057	19	c.918 others(38): Show c.918+39340_918+39341insAAAAATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	187	0.0053	19	c.918 others(38): Show c.918+39339_918+39340insTATATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(12): Show GTTTTTTTTTGTTTTTGTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	69	0.0145	19	c.843 others(36): Show c.843+3730_843+3731insTTTTTTTTTGTTTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01256.hp1 others(6): Show HG00738.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG02886.hp1 HG02976.hp1 HG06807.hp2 NA19006.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0004 a0003c0006 a0017c0035 a0001c0004 a0003c0006 a0017c0035	a0001c0004t0001 a0003c0006t0001 a0017c0035t0001 a0001c0004t0001 a0003c0006t0001 a0017c0035t0001	a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 others(6): Show a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0003c0006t0001g0079 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0017c0035t0001g0094	9	77	0.1169	19	c.843 others(36): Show c.843+3730_843+3731insTTTTTTTTTTTTTTGTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18970.hp2 NA19000.hp1 others(1): Show HG02148.hp2 NA18970.hp2 NA19000.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0005 a0004c0003 a0001c0004 a0003c0005 a0004c0003	a0001c0004t0001 a0003c0005t0001 a0004c0003t0001 a0001c0004t0001 a0003c0005t0001 a0004c0003t0001	a0001c0004t0001g0080 a0003c0005t0001g0018 a0003c0005t0001g0083 others(1): Show a0001c0004t0001g0080 a0003c0005t0001g0018 a0003c0005t0001g0083 a0004c0003t0001g0081	4	72	0.0556	19	c.843 others(36): Show c.843+3730_843+3731insTTTTTTTTTTTTTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0001 a0017c0035t0001	a0017c0035t0001g0094 a0017c0035t0001g0094	1	46	0.0217	19	c.843 others(38): Show c.843+20244_843+20262dupAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41378520	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0091 a0002c0017t0002g0091	1	65	0.0154	19	c.844 others(40): Show c.844-127935_844-127917dupTTTTTTTTTTTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402130	T T	TATACACA others(12): Show TATACACACACTGAGTATAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0010 a0010	a0010c0051 a0010c0051	a0010c0051t0001 a0010c0051t0001	a0010c0051t0001g0021 a0010c0051t0001g0021	1	206	0.0049	19	c.844 others(40): Show c.844-104323_844-104322insCACACACTGAGTATACATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77226044	G G	GATATATA others(12): Show GATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03492.hp1 HG02040.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0234 a0002c0002t0018g0266 a0002c0002t0002g0234 a0002c0002t0018g0266	2	174	0.0115	19	c.-11 others(40): Show c.-115+26322_-115+26323insATATATATATTATATATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	3	0.3333	19	c.-60 others(40): Show c.-602-11712_-602-11694dupAAAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156892764	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01261.hp1 others(42): Show HG00280.hp2 HG01070.hp1 HG01261.hp1 HG01934.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp1 NA19070.hp1 NA19086.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0010 a0015 a0016 a0019	a0001c0002 a0001c0007 a0001c0016 others(13): Show a0001c0002 a0001c0007 a0001c0016 a0001c0018 a0001c0034 a0002c0001 a0002c0006 a0003c0003 a0003c0020 a0003c0033 a0004c0039 a0008c0040 a0010c0021 a0015c0023 a0016c0036 a0019c0037	a0001c0002t0003 a0001c0002t0017 a0001c0002t0020 others(17): Show a0001c0002t0003 a0001c0002t0017 a0001c0002t0020 a0001c0007t0003 a0001c0016t0003 a0001c0018t0005 a0001c0018t0006 a0001c0034t0006 a0002c0001t0006 a0002c0006t0005 a0003c0003t0006 a0003c0020t0003 a0003c0020t0006 a0003c0033t0003 a0004c0039t0005 a0008c0040t0006 a0010c0021t0003 a0015c0023t0003 a0016c0036t0019 a0019c0037t0006	a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 others(34): Show a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0065 a0001c0002t0003g0067 a0001c0002t0003g0074 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0017g0032 a0001c0002t0020g0002 a0001c0007t0003g0002 a0001c0007t0003g0051 a0001c0007t0003g0214 a0001c0016t0003g0033 a0001c0016t0003g0034 a0001c0018t0005g0011 a0001c0018t0006g0088 a0001c0034t0006g0087 a0002c0001t0006g0094 a0002c0006t0005g0006 a0002c0006t0005g0062 a0002c0006t0005g0093 a0003c0003t0006g0095 a0003c0020t0003g0077 a0003c0020t0006g0011 a0003c0033t0003g0073 a0004c0039t0005g0079 a0008c0040t0006g0011 a0010c0021t0003g0007 a0015c0023t0003g0002 a0016c0036t0019g0036 a0019c0037t0006g0036	45	328	0.1372	19	c.-10 others(30): Show c.-1083_-1082insTTTTTTTTTTTTGTTTTTG	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding		953		chr1	TogoVar
PEBP4_chr8_22708251_22932914	22728545	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0010 a0004c0003t0010	a0004c0003t0010g0095 a0004c0003t0010g0095	1	276	0.0036	19	c.358 others(36): Show c.358-1326_358-1325insGGAAGGAAGGAAGGAAGGA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01099.hp2 others(12): Show HG00140.hp1 HG00280.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01928.hp1 HG02004.hp2 HG02074.hp1 HG02630.hp2 HG03927.hp1 NA18941.hp1 NA19000.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0004c0011 a0010c0028	a0001c0001t0001 a0001c0001t0002 a0001c0005t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0007 a0002c0002t0001 a0002c0002t0002 a0003c0004t0003 a0003c0004t0004 a0004c0011t0006 a0010c0028t0003	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0117 others(12): Show a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0002g0199 a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0005t0007g0001 a0002c0002t0001g0081 a0002c0002t0002g0209 a0003c0004t0003g0050 a0003c0004t0003g0151 a0003c0004t0004g0262 a0004c0011t0006g0008 a0010c0028t0003g0061	15	61	0.2459	19	c.358 others(38): Show c.358-22586_358-22585insAAAAAAAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22765113	A A	ATTCTTCC others(12): Show ATTCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0267 a0003c0004t0004g0267	1	276	0.0036	19	c.358 others(38): Show c.358-37894_358-37893insGGAAGGAAGGAAGGAAGAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64318949	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG01891.hp2 others(2): Show HG01099.hp1 HG01884.hp2 HG01891.hp2 HG03209.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0006 a0002c0002t0001 a0004c0008t0006	a0002c0002t0001g0038 a0004c0008t0006g0116 a0004c0008t0006g0117 others(2): Show a0002c0002t0001g0038 a0004c0008t0006g0116 a0004c0008t0006g0117 a0004c0008t0006g0119 a0004c0008t0006g0120	5	51	0.0980	19	c.48 others(30): Show c.4866_*4867insAAAAAAAAAAAAAAAAAAA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding		465		chr17	TogoVar
PELI1_chr2_64087652_64149420	64144372	G G	GGCGGCGC others(12): Show GGCGGCGCCCCCCGACGGTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG02293.hp1 HG01123.hp1 HG01167.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0244 a0001c0002t0006g0245 a0001c0002t0006g0246 a0001c0002t0006g0244 a0001c0002t0006g0245 a0001c0002t0006g0246	3	302	0.0099	19	c.-38 others(28): Show c.-380_-362dupGACCGTCGGGGGGCGCCGC	PELI1	ENSG00000197329.12	transcript	ENST00000358912.5	protein_coding	1/7	36063		chr2	TogoVar
PELP1_chr17_4664774_4709137	4668953	C C	CATATATA others(12): Show CATATATATAACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0215 a0005c0008t0004g0215	1	280	0.0036	19	c.24 others(30): Show c.2485_*2486insATATATGTGTTATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		820		chr17	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02723.hp2 HG03831.hp2 others(3): Show HG02080.hp1 HG02723.hp2 HG03831.hp2 NA18968.hp2 NA19054.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0006 a0002c0003t0003 a0001c0001t0001 a0001c0002t0006 a0002c0003t0003	a0001c0001t0001g0020 a0001c0001t0001g0165 a0001c0002t0006g0081 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0165 a0001c0002t0006g0081 a0001c0002t0006g0083 a0002c0003t0003g0236	6	14	0.4286	19	c.250 others(36): Show c.250-3056_250-3055insTTTTTTTTTTTTTTTTTTT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16			chr17	TogoVar
PENK_chr8_56435957_56451641	56438727	T T	TGGGGGGG others(12): Show TGGGGGGGGGGGAGTGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	271	0.0037	19	c.25 others(30): Show c.2544_*2545insCCAACACTCCCCCCCCCCC	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding		2229		chr8	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	42	0.0238	19	c.113 others(38): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18966.hp1 HG00741.hp1 NA18966.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0010 a0001c0003 a0006c0010	a0001c0003t0001 a0006c0010t0001 a0001c0003t0001 a0006c0010t0001	a0001c0003t0001g0112 a0006c0010t0001g0127 a0001c0003t0001g0112 a0006c0010t0001g0127	2	43	0.0465	19	c.113 others(38): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18988.hp2 HG01496.hp1 NA18988.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0148 a0001c0003t0001g0108 a0001c0003t0001g0148	2	43	0.0465	19	c.113 others(38): Show c.1137-2080_1137-2079insAAAAAAAAATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7816015	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0094 a0002c0013t0001g0094	1	405	0.0025	19	c.152 others(38): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAATTGAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX10_chr1_2398974_2417564	2401124	C C	CCAGTGCC others(12): Show CCAGTGCCCTGGAGGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	19	c.46 others(30): Show c.4623_*4641dupCTCAACCTCCAGGGCACTG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2849		chr1	TogoVar
PEX12_chr17_35569795_35583571	35581306	A A	ACACACAA others(12): Show ACACACAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	430	0.0023	19	c.-32 others(30): Show c.-3286_-3285insATATATATATATTTGTGTG	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2736		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581307	T T	TACACAAA others(12): Show TACACAAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA20905.hp2 HG01109.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	227	0.0088	19	c.-32 others(30): Show c.-3287_-3286insTATATATATATATTTGTGT	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2737		chr17	TogoVar
PEX1_chr7_92482025_92533520	92516038	G G	GAAAAAAG others(12): Show GAAAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	284	0.0035	19	c.123 others(38): Show c.1239+1237_1239+1238insTTCTTTTCTTTTCTTTTTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516054	A A	AAGAGAAG others(12): Show AAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	308	0.0032	19	c.123 others(38): Show c.1239+1221_1239+1222insCTCTTCTCTTCTCTTCTCT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5L_chr3_179789958_180041937	180010246	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	108	0.0093	19	c.21+ others(36): Show c.21+26314_21+26332dupAAAAAAAAAAAAAAAAAAA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar

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