Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GNAT3_chr7_80453635_80517064	80497622	GTATATAC others(47): Show GTATATACATATACGTATATACATATACGTATATACATATACGTATATAC ATACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 NA18906.hp2 HG02615.hp2 HG03130.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294 a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294	3	334	0.0090	-54	c.119 others(71): Show c.119-3029_119-2976delTGTATGTATATACGTATATGTATATACG TATATGTATATACGTATATGTATATA		GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7						chr7	TogoVar
GNG7_chr19_2506219_2707694	2651282	CTCCATCC others(47): Show CTCCATCCCTCCCTCCCTACCTTCCCTCCATCCCTCCCTCCCTCCCTCCC TACCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02451.hp1 others(4): Show HG01167.hp2 HG01243.hp2 HG02451.hp1 HG03209.hp1 HG03579.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0024 a0001c0001t0045 others(4): Show a0001c0001t0018 a0001c0001t0024 a0001c0001t0045 a0001c0001t0050 a0001c0001t0073 a0001c0001t0086 a0001c0001t0095	a0001c0001t0018g0158 a0001c0001t0024g0056 a0001c0001t0045g0004 others(4): Show a0001c0001t0018g0158 a0001c0001t0024g0056 a0001c0001t0045g0004 a0001c0001t0050g0016 a0001c0001t0073g0185 a0001c0001t0086g0005 a0001c0001t0095g0139	7	206	0.0340	-54	c.-13 others(73): Show c.-134-5056_-134-5003delAGGTAGGGAGGGAGGGAGGGAGGGAT GGAGGGAAGGTAGGGAGGGAGGGATGGA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(47): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGA GGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01884.hp1 HG01952.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG01952.hp2 HG02683.hp1 HG03453.hp1 HG03927.hp1 HG04115.hp2 NA18978.hp1 NA18986.hp2 NA19009.hp1	a0010 a0017 a0021 others(2): Show a0010 a0017 a0021 a0031 a0044	a0010c0012 a0010c0053 a0017c0020 others(3): Show a0010c0012 a0010c0053 a0017c0020 a0021c0019 a0031c0054 a0044c0052	a0010c0012t0001 a0010c0053t0001 a0017c0020t0008 others(3): Show a0010c0012t0001 a0010c0053t0001 a0017c0020t0008 a0021c0019t0001 a0031c0054t0019 a0044c0052t0010	a0010c0012t0001g0022 a0010c0012t0001g0094 a0010c0053t0001g0091 others(5): Show a0010c0012t0001g0022 a0010c0012t0001g0094 a0010c0053t0001g0091 a0017c0020t0008g0092 a0017c0020t0008g0093 a0021c0019t0001g0023 a0031c0054t0019g0047 a0044c0052t0010g0095	10	204	0.0490	-54	c.93_ others(60): Show c.93_146delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.His others(11): Show p.His32_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	93/2007	31/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136660	ATGGGTAG others(47): Show ATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGT GGGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(73): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18986.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA20905.hp2	a0001 a0012 a0029 others(1): Show a0001 a0012 a0029 a0034	a0001c0001 a0001c0005 a0012c0023 others(3): Show a0001c0001 a0001c0005 a0012c0023 a0012c0070 a0029c0068 a0034c0069	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0005t0004 a0012c0023t0001 a0012c0070t0001 a0029c0068t0001 a0034c0069t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0133 a0001c0001t0012g0029 a0001c0001t0014g0027 a0001c0001t0020g0128 a0001c0005t0004g0007 a0012c0023t0001g0025 a0012c0070t0001g0121 a0029c0068t0001g0131 a0034c0069t0001g0120	76	204	0.3726	-54	c.18_ others(59): Show c.18_71delACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCC CACCTCCCTACCCA	p.Gln others(10): Show p.Gln6_Thr23del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	162/3822	18/2007	6/668			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459011	ACCCCACC others(47): Show ACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTA CCCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp2 NA19007.hp1 NA19088.hp1 HG01361.hp2 NA19007.hp1 NA19088.hp1	a0020 a0025 a0020 a0025	a0020c0023 a0025c0063 a0020c0023 a0025c0063	a0020c0023t0003 a0025c0063t0002 a0020c0023t0003 a0025c0063t0002	a0020c0023t0003g0002 a0020c0023t0003g0038 a0025c0063t0002g0001 a0020c0023t0003g0002 a0020c0023t0003g0038 a0025c0063t0002g0001	3	226	0.0133	-54	c.75_ others(60): Show c.75_128delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.His others(11): Show p.His26_Pro43del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	166/4401	75/2565	25/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842807	CCTGCTTC others(47): Show CCTGCTTCCGGATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTC CTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01981.hp1 HG02027.hp2 HG02055.hp1 others(23): Show HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA19043.hp2 NA20300.hp1	a0004 a0025 a0027 a0004 a0025 a0027	a0004c0004 a0004c0005 a0004c0036 others(2): Show a0004c0004 a0004c0005 a0004c0036 a0025c0059 a0027c0038	a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 others(3): Show a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 a0004c0036t0001 a0025c0059t0006 a0027c0038t0002	a0004c0004t0002g0005 a0004c0004t0002g0074 a0004c0004t0006g0087 others(6): Show a0004c0004t0002g0005 a0004c0004t0002g0074 a0004c0004t0006g0087 a0004c0005t0002g0011 a0004c0005t0002g0100 a0004c0005t0002g0101 a0004c0036t0001g0088 a0025c0059t0006g0111 a0027c0038t0002g0099	26	422	0.0616	-54	c.124 others(63): Show c.1243_1296delATGAGGAAGCAGGAGGAGCAGATGGGGGAGCAGGAG GAGCAGATCCGGAAGCAG	p.Met others(13): Show p.Met415_Gln432del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1391/2367	1243/1869	415/622			chr15	TogoVar
GP6_chr19_55008705_55043264	55026964	TGGCCCCG others(47): Show TGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCA CCTAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp1 HG02257.hp1 others(6): Show HG00423.hp2 HG01255.hp1 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02818.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp2	a0003 a0004 a0006 others(2): Show a0003 a0004 a0006 a0012 a0016	a0003c0003 a0004c0008 a0006c0007 others(2): Show a0003c0003 a0004c0008 a0006c0007 a0012c0015 a0016c0024	a0003c0003t0003 a0004c0008t0003 a0006c0007t0002 others(3): Show a0003c0003t0003 a0004c0008t0003 a0006c0007t0002 a0006c0007t0009 a0012c0015t0001 a0016c0024t0002	a0003c0003t0003g0039 a0004c0008t0003g0014 a0006c0007t0002g0306 others(6): Show a0003c0003t0003g0039 a0004c0008t0003g0014 a0006c0007t0002g0306 a0006c0007t0002g0372 a0006c0007t0009g0402 a0012c0015t0001g0105 a0012c0015t0001g0314 a0012c0015t0001g0382 a0016c0024t0002g0419	9	441	0.0204	-54	c.610 others(69): Show c.610+560_610+613delGTAGGTGGGAAGGAAGTGGGAGGGCAGGAA GCCCTGGGCTGCAGGGGCGGGGCC		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55027277	CTTCCCAC others(47): Show CTTCCCACCTCTGGCGCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCA CTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01496.hp1 HG00639.hp1 HG01081.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0002g0123 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0002t0002g0123 a0002c0004t0001g0102 a0002c0004t0001g0103	3	441	0.0068	-54	c.610 others(69): Show c.610+247_610+300delAGAAGTGGGAGGGCAGGAAGCCCTGGGCTG CAGGGGCGGCGCCAGAGGTGGGAA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55027301	GCAGCCCA others(47): Show GCAGCCCAGGGCTTCCTGCCCTCCCACTTCTTTCCCACCTATGGCCGCGC CCCTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG03579.hp1 HG02615.hp2 HG02647.hp1 HG03579.hp1	a0018 a0019 a0022 a0018 a0019 a0022	a0018c0036 a0019c0037 a0022c0039 a0018c0036 a0019c0037 a0022c0039	a0018c0036t0002 a0019c0037t0001 a0022c0039t0010 a0018c0036t0002 a0019c0037t0001 a0022c0039t0010	a0018c0036t0002g0269 a0019c0037t0001g0375 a0022c0039t0010g0084 a0018c0036t0002g0269 a0019c0037t0001g0375 a0022c0039t0010g0084	3	441	0.0068	-54	c.610 others(69): Show c.610+223_610+276delTAGGGGCGCGGCCATAGGTGGGAAAGAAGT GGGAGGGCAGGAAGCCCTGGGCTG		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55027355	ACAGCCCA others(47): Show ACAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGC CCCTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01981.hp1 HG01123.hp2 HG01981.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0297 a0013c0017t0001g0360 a0013c0017t0001g0297 a0013c0017t0001g0360	2	441	0.0045	-54	c.610 others(69): Show c.610+169_610+222delCAGGGGCGGGGCCGTAGGTGGGAAGGAAGT GGGAGGGCAGGAAGCCCTGGGCTG		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GPC1_chr2_240430663_240473076	240442185	TTGACTTC others(47): Show TTGACTTCCCGGGCATCGGCCAACACGTACCCTCCCTGTTGCCGGGGCCC CCGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02895.hp1 others(1): Show HG02258.hp1 HG02572.hp1 HG02895.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(1): Show a0001c0004 a0001c0005 a0001c0006 a0001c0013	a0001c0004t0027 a0001c0005t0005 a0001c0006t0008 others(1): Show a0001c0004t0027 a0001c0005t0005 a0001c0006t0008 a0001c0013t0008	a0001c0004t0027g0263 a0001c0005t0005g0288 a0001c0006t0008g0289 others(1): Show a0001c0004t0027g0263 a0001c0005t0005g0288 a0001c0006t0008g0289 a0001c0013t0008g0262	4	398	0.0101	-54	c.166 others(71): Show c.166+6104_166+6157delACTTCCCGGGCATCGGCCAACACGTACC CTCCCTGTTGCCGGGGCCCCCGCCTG		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453332	ACCGCCCG others(47): Show ACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGC TCCCT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03688.hp2 NA18960.hp2 others(2): Show HG02273.hp1 HG03688.hp2 NA18960.hp2 NA18967.hp1 NA19083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0019 a0002c0001t0001 a0002c0001t0019	a0002c0001t0001g0043 a0002c0001t0001g0155 a0002c0001t0001g0196 others(2): Show a0002c0001t0001g0043 a0002c0001t0001g0155 a0002c0001t0001g0196 a0002c0001t0001g0298 a0002c0001t0019g0201	5	398	0.0126	-54	c.167 others(71): Show c.167-5680_167-5627delACCGCCCGCCCCGCTCCCTCCGCCCGCC CCGCTCCCTCCGCCCGCCCCGCTCCC		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453350	ACCGCCCG others(47): Show ACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCGC TCCCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp1 others(28): Show HG00438.hp2 HG00597.hp1 HG00609.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02602.hp2 HG03017.hp2 HG03491.hp2 HG03831.hp2 HG04115.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18990.hp1 NA18997.hp1 NA19002.hp2 NA19007.hp1 NA19072.hp2 NA19086.hp1 NA19088.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0001	a0001c0002t0002 a0001c0004t0004 a0001c0005t0001 others(3): Show a0001c0002t0002 a0001c0004t0004 a0001c0005t0001 a0002c0001t0001 a0002c0001t0010 a0002c0001t0013	a0001c0002t0002g0046 a0001c0004t0004g0009 a0001c0005t0001g0014 others(26): Show a0001c0002t0002g0046 a0001c0004t0004g0009 a0001c0005t0001g0014 a0001c0005t0001g0287 a0002c0001t0001g0014 a0002c0001t0001g0022 a0002c0001t0001g0044 a0002c0001t0001g0049 a0002c0001t0001g0067 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0110 a0002c0001t0001g0120 a0002c0001t0001g0130 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0160 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0217 a0002c0001t0001g0243 a0002c0001t0001g0257 a0002c0001t0001g0320 a0002c0001t0001g0338 a0002c0001t0010g0084 a0002c0001t0013g0214 a0002c0001t0013g0278	31	398	0.0779	-54	c.167 others(71): Show c.167-5626_167-5573delTCCGCCCGCCCCGCTCCCTCCGCCCGCC CCGCTCCCTCCGCCCGCCCCGCTCCC		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPR157_chr1_9095305_9134102	9123262	ATATATAT others(47): Show ATATATATATTTAAATATATATTTAAATTAATATATATTTAATTTAAATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0198 a0001c0001t0056g0198	1	404	0.0025	-54	c.383 others(71): Show c.383+5329_383+5382delATATATATTTAAATTAAATATATATTAA TTTAAATATATATTTAAATATATATA		GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3						chr1	TogoVar
GPR39_chr2_132411805_132651582	132492673	TATAATAT others(47): Show TATAATATATATACACACCATATATATATAATATATATACACACCATATA TATAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0033 a0004c0005t0001g0033	1	208	0.0048	-54	c.856 others(73): Show c.856+74776_856+74829delATAATATATATACACACCATATATAT ATAATATATATACACACCATATATATAC		GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1						chr2	TogoVar
GPR87_chr3_151289086_151321820	151293584	CACACACA others(47): Show CACACACACACACACACACACACACACACACACACGGTCCTAAAATGAAG CCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01975.hp1 HG02735.hp1 others(4): Show HG01168.hp1 HG01975.hp1 HG02735.hp1 HG03669.hp1 HG04115.hp2 HG04184.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0053 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0002g0252	7	446	0.0157	-54	c.53 others(63): Show c.531_*584delAAGGGCTTCATTTTAGGACCGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT		GPR87	ENSG00000138271.6	transcript	ENST00000260843.5	protein_coding					501		chr3	TogoVar
GRHL1_chr2_9946693_10007277	9998747	CATATATA others(47): Show CATATATACGTATATATATGTACACACATATATACGTATATATATGTACA CACAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	1	418	0.0024	-54	c.167 others(71): Show c.1678-192_1678-139delCATATATACGTATATATATGTACACACA TATATATACGTATATATATGTACACA		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRID1_chr10_85594552_86371795	85930156	ATAACTAC others(47): Show ATAACTACAAATAACTTGCGGTTATTTATAACTACAAATAACTTGCGGTT ATTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02451.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0003 a0001c0002t0003 a0001c0004t0003	a0001c0002t0003g0073 a0001c0004t0003g0091 a0001c0002t0003g0073 a0001c0004t0003g0091	2	96	0.0208	-54	c.727 others(73): Show c.727-13971_727-13918delAAAATAACCGCAAGTTATTTGTAGTT ATAAATAACCGCAAGTTATTTGTAGTTA		GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15						chr10	TogoVar
GRID1_chr10_85594552_86371795	85930237	TTAACTAC others(47): Show TTAACTACAAATAACTTGCGGTTATTTATAACTACAAATAACTTGCGGTT ATTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03540.hp1 others(2): Show HG01891.hp1 HG02572.hp2 HG03540.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0005 a0001c0002t0004 a0001c0002t0035 others(2): Show a0001c0001t0005 a0001c0002t0004 a0001c0002t0035 a0001c0002t0042 a0002c0005t0045	a0001c0001t0005g0015 a0001c0002t0004g0084 a0001c0002t0035g0095 others(2): Show a0001c0001t0005g0015 a0001c0002t0004g0084 a0001c0002t0035g0095 a0001c0002t0042g0080 a0002c0005t0045g0062	5	96	0.0521	-54	c.727 others(73): Show c.727-14052_727-13999delTAAATAACCGCAAGTTATTTGTAGTT ATAAATAACCGCAAGTTATTTGTAGTTA		GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15						chr10	TogoVar
GRIFIN_chr7_2469728_2481398	2476456	GGGGGCTG others(47): Show GGGGGCTGGGGGTGGGGAGCGCCGGGGGAGGGCTGGGGGTGGGGAGCGCC GGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-54	c.-12 others(62): Show c.-127_-74delACCCCGGCGCTCCCCACCCCCAGCCCTCCCCCGGCGC TCCCCACCCCCAGCCCC		GRIFIN	ENSG00000275572.2	transcript	ENST00000614228.2	protein_coding					59		chr7	TogoVar
GRIK2_chr6_101388708_102075083	101738151	TAAATGTC others(47): Show TAAATGTCAATTGTAATTGACAATTGTCAAATGTCAATTGTAATTGACAA TTGTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0103 a0001c0004t0003g0103	1	116	0.0086	-54	c.951 others(73): Show c.951+51871_951+51924delACAATTGTCAAATGTCAATTGTAATT GACAATTGTCAAATGTCAATTGTAATTG		GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
GRK5_chr10_119202571_119464745	119218946	AGAGTGCA others(47): Show AGAGTGCAGTGGCACGATCTCAGCTCACCGCAACCTCCGCTTCCCGGGTT CAAGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0026 a0005c0007t0012 a0001c0001t0026 a0005c0007t0012	a0001c0001t0026g0114 a0005c0007t0012g0115 a0001c0001t0026g0114 a0005c0007t0012g0115	2	202	0.0099	-54	c.52+ others(71): Show c.52+10980_52+11033delGTGCAGTGGCACGATCTCAGCTCACCGC AACCTCCGCTTCCCGGGTTCAAGCGA		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119394541	GTGTGGGG others(47): Show GTGTGGGGGCACGTGTATGTTTGGGTGTGTGTGTGTCTGTGTGTGGGTGT GTGTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	202	0.0050	-54	c.262 others(71): Show c.262-2149_262-2096delGGGGCACGTGTATGTTTGGGTGTGTGTG TGTCTGTGTGTGGGTGTGTGTCTGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK6_chr5_177421676_177447891	177446158	AACTTCAG others(47): Show AACTTCAGAGTGGCCTCTGCAAGCTTGGACCTCGGGGTAGACAGTGGGGC GCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	382	0.0026	-54	c.43 others(65): Show c.4369_*4422delACTTCAGAGTGGCCTCTGCAAGCTTGGACCTCGG GGTAGACAGTGGGGCGCTCT		GRK6	ENSG00000198055.11	transcript	ENST00000355472.10	protein_coding					3268		chr5	TogoVar
GRM5_chr11_88499642_89070982	89036639	GGCAAGAC others(47): Show GGCAAGACTATTAATCAGTATTTGTACTCAAATTTGCCCCAAAGTCCCTC AACTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(117): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03688.hp1 HG03688.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0002c0007 a0002c0010 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0027 a0001c0002t0028 a0001c0002t0033 a0001c0003t0001 a0001c0003t0034 a0001c0004t0008 a0001c0004t0012 a0001c0004t0014 a0001c0005t0002 a0001c0006t0015 a0001c0006t0017 a0001c0008t0001 a0001c0009t0013 a0001c0011t0035 a0001c0014t0002 a0002c0007t0018 a0002c0010t0016 a0002c0013t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 others(117): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0003g0028 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0119 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0178 a0001c0001t0004g0006 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0093 a0001c0001t0004g0103 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0169 a0001c0001t0004g0175 a0001c0001t0005g0071 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0097 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0110 a0001c0001t0005g0129 a0001c0001t0005g0133 a0001c0001t0005g0161 a0001c0001t0006g0125 a0001c0001t0006g0165 a0001c0001t0006g0177 a0001c0001t0007g0104 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0010g0180 a0001c0001t0011g0001 a0001c0001t0019g0149 a0001c0001t0021g0024 a0001c0001t0023g0068 a0001c0001t0025g0070 a0001c0001t0029g0171 a0001c0001t0032g0113 a0001c0001t0036g0181 a0001c0001t0037g0182 a0001c0001t0038g0183 a0001c0002t0001g0029 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0003g0095 a0001c0002t0003g0170 a0001c0002t0004g0034 a0001c0002t0004g0164 a0001c0002t0010g0174 a0001c0002t0027g0027 a0001c0002t0028g0031 a0001c0002t0033g0111 a0001c0003t0001g0089 a0001c0003t0001g0166 a0001c0003t0034g0122 a0001c0004t0008g0003 a0001c0004t0008g0004 a0001c0004t0012g0087 a0001c0004t0014g0005 a0001c0005t0002g0035 a0001c0006t0015g0159 a0001c0006t0017g0158 a0001c0008t0001g0085 a0001c0008t0001g0168 a0001c0009t0013g0151 a0001c0011t0035g0025 a0001c0014t0002g0167 a0002c0007t0018g0128 a0002c0010t0016g0157 a0002c0013t0001g0152	120	184	0.6522	-54	c.661 others(73): Show c.661+10519_661+10572delTAGTTGAGGGACTTTGGGGCAAATTT GAGTACAAATACTGATTAATAGTCTTGC		GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	2/9						chr11	TogoVar
GRM7_chr3_6856115_7746533	7099219	TAATACAT others(47): Show TAATACATGTATTATACATGTATATATGAATACATGTATTATACATGTAT ATATG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02258.hp2 HG02559.hp2 others(3): Show HG01069.hp2 HG02258.hp2 HG02559.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0015	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0008t0002 a0001c0015t0009	a0001c0001t0003g0006 a0001c0003t0001g0037 a0001c0003t0002g0044 others(3): Show a0001c0001t0003g0006 a0001c0003t0001g0037 a0001c0003t0002g0044 a0001c0004t0003g0054 a0001c0008t0002g0020 a0001c0015t0009g0045	6	80	0.0750	-54	c.520 others(73): Show c.520-47205_520-47152delAATACATGTATTATACATGTATATAT GAATACATGTATTATACATGTATATATG		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GSTM4_chr1_109651099_109666700	109654170	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAGGAA AGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	364	0.0028	-54	c.-22 others(65): Show c.-2219_-2166delAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAG AAAGAAAGAAAGGAAAGAAA		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1928		chr1	TogoVar
GSTM4_chr1_109651099_109666700	109654174	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAGGAAAGAA AGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18946.hp2 HG01361.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0036 a0001c0001t0002g0001 a0001c0001t0002g0036	2	364	0.0055	-54	c.-22 others(65): Show c.-2215_-2162delAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAG AAAGAAAGGAAAGAAAGAAA		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1924		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42160706	AACTCTTA others(47): Show AACTCTTACTTTTGTTCATCTTTTCTATTGTTTTTCTGGTTTCTATTTCA GTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	-54	c.21 others(65): Show c.2146_*2199delATAACTGAAATAGAAACCAGAAAAACAATAGAAA AGATGAACAAAAGTAAGAGT		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					1983		chr1	TogoVar
GYG2_chrX_2823930_2887818	2844504	ATATATGT others(47): Show ATATATGTGTATACGCACACGCATGCGTATATATGTGTATACGCACACGC ATGCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0003 a0002c0006t0005 a0002c0006t0002 a0002c0006t0003 a0002c0006t0005	a0002c0006t0002g0121 a0002c0006t0003g0120 a0002c0006t0005g0119 a0002c0006t0002g0121 a0002c0006t0003g0120 a0002c0006t0005g0119	3	316	0.0095	-54	c.149 others(71): Show c.149+1182_149+1235delATGTGTATACGCACACGCATGCGTATAT GTGTATACGCACACGCATGCGTATAT		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2874663	CCATAAAC others(47): Show CCATAAACACCTGTGAAATGCATACATTCATGCCTCGATTAGGAGAATGA ACTGG	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0018 a0013c0014t0018	a0013c0014t0018g0147 a0013c0014t0018g0147	1	316	0.0032	-54	c.103 others(73): Show c.1039-1146_1039-1093delCATAAACACCTGTGAAATGCATACAT TCATGCCTCGATTAGGAGAATGAACTGG		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	8/10						chrX	TogoVar
GYPE_chr4_143865864_143910559	143883960	CTGAGTCA others(47): Show CTGAGTCAGAATTCCAGGGGTTCAGGTAGAGAGGTGTTTTCAGTCTATGG GAGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	398	0.0025	-54	c.38- others(69): Show c.38-3505_38-3452delCCCTCCCATAGACTGAAAACACCTCTCTAC CTGAACCCCTGGAATTCTGACTCA		GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3						chr4	TogoVar
HACD2_chr3_123486554_123590053	123492301	CCTTTGAC others(47): Show CCTTTGACTATGCCCTGAAATGAAACCTCTAAGTCTGACAAAATACCCAC AAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0118 a0001c0001t0028g0118	1	350	0.0029	-54	c.25 others(65): Show c.2533_*2586delTTTTTGTGGGTATTTTGTCAGACTTAGAGGTTTC ATTTCAGGGCATAGTCAAAG		HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	7/7				2533		chr3	TogoVar
HACD2_chr3_123486554_123590053	123526041	GAGCAAGC others(47): Show GAGCAAGCACTGGCCTCTGAGGGGCCACAGCAACAGCCTTTTCAAGGTGA CATAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03017.hp1 NA18522.hp2 HG02965.hp1 HG03017.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0001 a0001c0001t0013 a0001c0003t0001	a0001c0001t0013g0114 a0001c0001t0013g0115 a0001c0003t0001g0324 a0001c0001t0013g0114 a0001c0001t0013g0115 a0001c0003t0001g0324	3	350	0.0086	-54	c.381 others(71): Show c.381+2291_381+2344delATATGTCACCTTGAAAAGGCTGTTGCTG TGGCCCCTCAGAGGCCAGTGCTTGCT		HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	4/6						chr3	TogoVar
HAMP_chr19_35277528_35290143	35283164	CTACGCCG others(47): Show CTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACA AGGTA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	448	0.0022	-54	c.90+ others(67): Show c.90+498_90+551delTACGCCGTGTGGAGTCTTATTCTAGACAGTGG GGACGAGGCCATGAACAAGGTA		HAMP	ENSG00000105697.9	transcript	ENST00000222304.5	protein_coding	1/2						chr19	TogoVar
HCN2_chr19_584881_622159	613578	CGGGGATG others(47): Show CGGGGATGGGGATGGGGATGGGGATGGGGCCGGGGATGGGGATGGGGATG GGGAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03486.hp2 HG01123.hp1 HG03486.hp2	a0001 a0001	a0001c0023 a0001c0112 a0001c0023 a0001c0112	a0001c0023t0002 a0001c0112t0003 a0001c0023t0002 a0001c0112t0003	a0001c0023t0002g0014 a0001c0112t0003g0159 a0001c0023t0002g0014 a0001c0112t0003g0159	2	408	0.0049	-54	c.182 others(70): Show c.1825+95_1825+148delATGGGGATGGGGATGGGGATGGGGCCGGG GATGGGGATGGGGATGGGGATGGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC5_chr17_44071753_44128641	44122584	GCCAGGGG others(47): Show GCCAGGGGTATCAAGTGGTCATCTCCTCTCCCAAAGGAAGCACCCAACCT CCCCA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	296	0.0034	-54	c.-19 others(71): Show c.-190+866_-190+919delTGGGGAGGTTGGGTGCTTCCTTTGGGAG AGGAGATGACCACTTGATACCCCTGG		HDAC5	ENSG00000108840.16	transcript	ENST00000682912.1	protein_coding	1/26						chr17	TogoVar
HECW2_chr2_196189072_196598554	196598242	GGAAGGGG others(47): Show GGAAGGGGGGAAGGGAAGGGGAGGGTAAGAGGGGAAGGGGGGAAGGGAAG GGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0045 a0001c0010t0002g0045	1	112	0.0089	-54	c.-48 others(65): Show c.-4824_-4771delTTCCCCTTCCCTTCCCCCCTTCCCCTCTTACCCT CCCCTTCCCTTCCCCCCTTC		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding					4689		chr2	TogoVar
HENMT1_chr1_108643295_108666093	108652555	CTTGCTGC others(47): Show CTTGCTGCCATCCCATCTAAGTCAGTGTGTCCTAAGCAAACTAGACATTG ACAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0186	1	442	0.0023	-54	c.399 others(71): Show c.399-1400_399-1347delTTTGTCAATGTCTAGTTTGCTTAGGACA CACTGACTTAGATGGGATGGCAGCAA		HENMT1	ENSG00000162639.16	transcript	ENST00000651461.1	protein_coding	5/7						chr1	TogoVar
HGFAC_chr4_3436968_3454486	3440709	ACATTCAC others(47): Show ACATTCACCGTGCCCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAA CCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	454	0.0022	-54	c.-12 others(65): Show c.-1292_-1239delCATTCACCGTGCCCCCAGGGCCCACCATGACCTC CCCCCCAACCCCCAACCCCC		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding					1258		chr4	TogoVar
HIC2_chr22_21412371_21456463	21428325	ACCTACCT others(47): Show ACCTACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACTGTG CTCAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	288	0.0035	-54	c.-74 others(73): Show c.-74+10769_-74+10822delACCTCAGCCTCCCAAAGTGCTGGGAC TACAGGCGTGAGCCACTGTGCTCAGCCT		HIC2	ENSG00000169635.10	transcript	ENST00000407464.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
HIF1A_chr14_61690513_61753258	61747865	ATGTAGTT others(47): Show ATGTAGTTGTGGAAGTTTATGCTAATATTGTGTAACTGATATTAAACCTA AATGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0089 a0002c0002t0012g0089	1	322	0.0031	-54	c.78 others(63): Show c.782_*835delGTAGTTGTGGAAGTTTATGCTAATATTGTGTAACTG ATATTAAACCTAAATGTT		HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	15/15				782	INFO_REALIGN_3_PRIME	chr14	TogoVar
HINT3_chr6_125951770_125985244	125962221	TATATATA others(47): Show TATATATATATATACACATATATATATATACACACATATATATATATATA CATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG06807.hp1 NA18944.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18979.hp2 NA18995.hp1 NA19003.hp2 NA19057.hp1 NA19075.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 a0002c0002t0013 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0016g0001 a0002c0002t0001g0008 a0002c0002t0001g0030 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0013g0219 a0004c0005t0001g0108	77	268	0.2873	-54	c.202 others(71): Show c.202-4654_202-4601delTACACATATATATATATACACACATATA TATATATATACATACATATATATATA		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41545644	TCACCACC others(47): Show TCACCACCACTACCACCCCTGCCACAGCCACCACCACCACCATCACCACC ATCAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02809.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0047 a0001c0011 a0001c0047	a0001c0011t0021 a0001c0047t0024 a0001c0011t0021 a0001c0047t0024	a0001c0011t0021g0040 a0001c0047t0024g0042 a0001c0011t0021g0040 a0001c0047t0024g0042	2	134	0.0149	-54	c.520 others(75): Show c.5208-20788_5208-20735delGTGATGGTGGTGATGGTGGTGGTG GTGGCTGTGGCAGGGGTGGTAGTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824762	TATATATA others(47): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0031 a0031	a0031c0039 a0031c0039	a0031c0039t0048 a0031c0039t0048	a0031c0039t0048g0119 a0031c0039t0048g0119	1	134	0.0075	-54	c.-80 others(75): Show c.-801+93597_-801+93650delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATATATATATATATAT		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8						chr1	TogoVar
HLTF_chr3_149025127_149091533	149079463	CTATCTCA others(47): Show CTATCTCATTAAAAAGTATATAATTATAAATCTTTGTTGATAGGTATACT ACATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0017 a0002c0004 others(3): Show a0001c0001 a0001c0017 a0002c0004 a0004c0018 a0008c0012 a0010c0011	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0017t0001 a0002c0004t0001 a0002c0004t0009 a0004c0018t0001 a0008c0012t0001 a0010c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0359 a0001c0001t0011g0129 a0001c0001t0011g0131 a0001c0001t0014g0363 a0001c0001t0014g0364 a0001c0001t0015g0130 a0001c0001t0018g0163 a0001c0001t0020g0221 a0001c0017t0001g0158 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0199 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0229 a0002c0004t0001g0241 a0002c0004t0001g0242 a0002c0004t0009g0016 a0002c0004t0009g0153 a0004c0018t0001g0155 a0008c0012t0001g0183 a0008c0012t0001g0238 a0010c0011t0001g0133 a0010c0011t0001g0194	144	404	0.3564	-54	c.229 others(71): Show c.229-3470_229-3417delTATGTAGTATACCTATCAACAAAGATTT ATAATTATATACTTTTTAATGAGATA		HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24						chr3	TogoVar
HMGN2_chr1_26467440_26481642	26470450	CATTTTAC others(47): Show CATTTTACTTTCTGCAAGCTGTTTCCCTAGCAGCTCCCTCTAGGGGAGAG GTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-54	c.-21 others(65): Show c.-2162_-2109delATTTTACTTTCTGCAAGCTGTTTCCCTAGCAGCT CCCTCTAGGGGAGAGGTGAA		HMGN2	ENSG00000198830.12	transcript	ENST00000361427.6	protein_coding					1989		chr1	TogoVar
HNF1A_chr12_120973543_121007512	120990616	ATAGGAAA others(47): Show ATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGG AAAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG03486.hp2 HG02818.hp1 HG03453.hp2 HG03486.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0061 a0004c0013t0001g0062 a0004c0013t0001g0063 a0004c0013t0001g0061 a0004c0013t0001g0062 a0004c0013t0001g0063	3	410	0.0073	-54	c.526 others(71): Show c.526+1600_526+1653delAGATAGGAAAGGGAGGAAAGGTAGGAAA GGGAGGAAAGGTAGGAAAGGGAGGAA		HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
HPS4_chr22_26445882_26488783	26482528	AACCCAAA others(47): Show AACCCAAATTAAGGAACTGTCATCTTGACAGTCCAAAAGTAACCTGAACA TGCAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0059 a0003c0003t0029g0059	1	404	0.0025	-54	c.-47 others(71): Show c.-478-342_-478-289delCTGCATGTTCAGGTTACTTTTGGACTGT CAAGATGACAGTTCCTTAATTTGGGT		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	1/13						chr22	TogoVar
HPSE2_chr10_98452077_99240852	99132187	AAGAAAGA others(47): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	142	0.0070	-54	c.610 others(73): Show c.610+11997_610+12050delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTTTCT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar

Search by Variant

Search

Search Results