Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NKD2_chr5_1003802_1043943	1026277	GCTGTGGG others(157): Show GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCGGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTTTCCC TGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18612.hp2 NA18939.hp1 others(2): Show HG00438.hp2 NA18612.hp2 NA18939.hp1 NA19007.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0008 a0001c0006t0009 a0001c0001t0005 a0001c0001t0008 a0001c0006t0009	a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0008g0092 others(1): Show a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0008g0092 a0001c0006t0009g0097	5	319	0.0157	-164	c.142 others(17): Show c.142-5863_142-5700del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026317	CGCTGTGG others(157): Show CGCTGTGGGCGTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCTCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGC CCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(42): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00735.hp2 HG00738.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA18951.hp2 NA18965.hp1 NA18984.hp1 NA18985.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0012 others(1): Show a0001c0001 a0001c0005 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0005t0011 a0001c0012t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0042 a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0081 a0001c0001t0006g0265 a0001c0001t0008g0088 a0001c0001t0012g0123 a0001c0001t0014g0149 a0001c0001t0026g0024 a0001c0005t0011g0002 a0001c0005t0011g0114 a0001c0012t0001g0012 a0002c0003t0001g0040	45	319	0.1411	-164	c.142 others(17): Show c.142-5820_142-5657del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026408	CGTCCCAG others(157): Show CGTCCCAGCCCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGC CCATTGTCCCTGCTCTTCCCATCTGCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCATTGTCCCTGCTCTTC CCACCCTCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp1 NA18981.hp1 others(2): Show HG01192.hp1 HG03225.hp1 NA18981.hp1 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0006t0009	a0001c0001t0005g0095 a0001c0001t0006g0076 a0001c0001t0008g0082 others(2): Show a0001c0001t0005g0095 a0001c0001t0006g0076 a0001c0001t0008g0082 a0001c0001t0008g0087 a0001c0006t0009g0072	5	319	0.0157	-164	c.142 others(17): Show c.142-5733_142-5570del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993443	CTCCTCTC others(157): Show CTCCTCTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCC CCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCC TCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0024 a0000c0001t0024	a0000c0001t0024g0081 a0000c0001t0024g0081	1	350	0.0029	-164	c.55 others(11): Show c.5531_*5694del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4815		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463772	GGAAGAAG others(157): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGA AAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	408	0.0025	-164	c.-30 others(11): Show c.-3067_-2904del	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2847		chr19	TogoVar
OR6J1_chr14_22625929_22649352	22637542	GTCAGCCC others(157): Show GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	362	0.0028	-164	c.-27 others(17): Show c.-27-2868_-27-2705del	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
P2RY8_chrX_1457581_1542185	1468809	CCCCTCAC others(157): Show CCCCTCACCCCTCCCCTTCCCTCTCCCCTCACCCCTCCCCTTCCCTCTCC CCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCTT CCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCTCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0108 a0003c0013t0001g0108	1	114	0.0088	-164	c.-24 others(17): Show c.-24-2391_-24-2228del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PACS1_chr11_66065272_66249744	66177938	AATGGATG others(157): Show AATGGATGCTTAAGAAAAATGTAGTGAATTAATGCATCCAGGTGTCTAGG TTCCATTTTTAATATTTAGATCTGCTTCATCTTTTCCAGAGAGTTGAACC AATATGATATCTAGTTATATTAAATATCAAGTGTTTTACTAAGTATTGAG TAGATATATAGGAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02809.hp1 others(2): Show HG01109.hp1 HG02572.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0058 a0001c0001t0004g0049 a0001c0001t0004g0050 others(2): Show a0001c0001t0001g0058 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052	5	322	0.0155	-164	c.357 others(19): Show c.357-15545_357-15382del	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCMT1_chr6_149744741_149816419	149763093	ATATGATA others(157): Show ATATGATATATATATCTATGATATGTATATCTATGATATATATGATATAT ATATCTATGATATATATCTATGATATCTATGATATATATCTATGATATCT ATGATATATATATCTATGATATCTATGATATAAATATCTATGATATCTAT GATATATATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	334	0.0030	-164	c.56- others(15): Show c.56-8068_56-7905del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PCMT1_chr6_149744741_149816419	149763094	TATGATAT others(157): Show TATGATATATATATCTATGATATGTATATCTATGATATATATGATATATA TATCTATGATATATATCTATGATATCTATGATATATATCTATGATATCTA TGATATATATATCTATGATATCTATGATATAAATATCTATGATATCTATG ATATATATATCTATG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	334	0.0030	-164	c.56- others(15): Show c.56-8065_56-7902del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PGAP1_chr2_196828004_196931707	196928467	TTTTTTTT others(157): Show TTTTTTTTTTTTTTTTTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATATTGACTCACTGCAGCCTCCGCTTCCCGGATTCA AGTGATCCTGGTGTCTCAGCCTCCAAGTAGCTGGGATTATAGGTGTGACC ACCACACCTGGCTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18984.hp1 HG02135.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0015 a0001c0001t0020g0014 a0001c0001t0019g0015 a0001c0001t0020g0014	2	188	0.0106	-164	c.-20 others(11): Show c.-2015_-1852del	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		1761		chr2	TogoVar
PIGN_chr18_62036164_62192056	62039818	ATGCCGCA others(157): Show ATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTT TAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGT GCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTA GGGCCCCATCCAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18994.hp1 NA18944.hp2 NA18994.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0139 a0001c0008t0140 a0001c0008t0139 a0001c0008t0140	a0001c0008t0139g0302 a0001c0008t0140g0290 a0001c0008t0139g0302 a0001c0008t0140g0290	2	342	0.0059	-164	c.58 others(11): Show c.5874_*6037del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1345		chr18	TogoVar
PIP4K2A_chr10_22529854_22719578	22664040	TATATATA others(157): Show TATATATACATATGTATATATACATATATATATATACGTATATATATATA CATATATATATATACATATATATATACATATATATATATACATATATATA TACATATATATACACATATATATATATACATATATATATATACATATATA TACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 others(7): Show HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013	a0001c0001t0018 a0001c0001t0039 a0001c0002t0010 others(3): Show a0001c0001t0018 a0001c0001t0039 a0001c0002t0010 a0001c0005t0014 a0001c0005t0020 a0001c0013t0006	a0001c0001t0018g0200 a0001c0001t0018g0202 a0001c0001t0039g0201 others(7): Show a0001c0001t0018g0200 a0001c0001t0018g0202 a0001c0001t0039g0201 a0001c0002t0010g0083 a0001c0005t0014g0080 a0001c0005t0014g0081 a0001c0005t0014g0082 a0001c0005t0020g0078 a0001c0005t0020g0084 a0001c0013t0006g0071	10	206	0.0485	-164	c.144 others(19): Show c.144+49979_144+50142del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	CATATGTA others(157): Show CATATGTATATATACATATATATATATACGTATATATATATACATATATA TATATACATATATATATACATATATATATATACATATATATATACATATA TATACACATATATATATATACATATATATATATACATATATATACATATA TATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02630.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG02630.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0002t0001g0026 others(4): Show a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032	7	206	0.0340	-164	c.144 others(19): Show c.144+49971_144+50134del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PLBD2_chr12_113353587_113396629	113386355	TTTTTTTT others(157): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCAGGCTGGA GTGCAATGGTGCGATCTCAGCTTGCTGCAACCTCTGCTTCCCGGGTTCAA GTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGC CACCACGCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02647.hp2 HG03139.hp2 others(2): Show HG01943.hp1 HG02647.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0018 a0001c0004t0020 a0001c0004t0015 a0001c0004t0018 a0001c0004t0020	a0001c0004t0015g0178 a0001c0004t0015g0185 a0001c0004t0018g0165 others(2): Show a0001c0004t0015g0178 a0001c0004t0015g0185 a0001c0004t0018g0165 a0001c0004t0020g0179 a0001c0004t0020g0180	5	278	0.0180	-164	c.128 others(17): Show c.1287-565_1287-402del	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG4B_chr5_87168_194966	165139	CGGGGCGG others(157): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTC CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCT CACACTAACGCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19066.hp1 NA18954.hp2 NA19066.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0003 a0002c0005t0002 a0002c0005t0003	a0002c0005t0002g0064 a0002c0005t0003g0096 a0002c0005t0002g0064 a0002c0005t0003g0096	2	210	0.0095	-164	c.347 others(19): Show c.3476+1592_3476+1755del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PRDM15_chr21_41793225_41884344	41806495	TCACCACC others(157): Show TCACCACCATCACCATCACCACCACCATCACCACCACCATCACTACCACC AACATCACCACCATCACCATCACCATACCACCACCATCACCACCACCACC ATTACTACCACCACCATCATCACCACCATCATCACCACCACCACCATCAC CACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(220): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0017 a0001c0026 a0001c0028 a0001c0031 a0001c0036 a0001c0044 a0001c0045 a0001c0048 a0001c0049 a0001c0054 a0001c0056 a0002c0050 a0003c0022 a0004c0033 a0005c0041 a0006c0039 a0007c0047 a0009c0032 a0010c0029	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(53): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0043 a0001c0002t0002 a0001c0002t0039 a0001c0003t0001 a0001c0003t0019 a0001c0003t0020 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0037 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0030 a0001c0005t0049 a0001c0006t0004 a0001c0006t0006 a0001c0006t0007 a0001c0006t0009 a0001c0006t0010 a0001c0006t0014 a0001c0006t0021 a0001c0008t0001 a0001c0008t0031 a0001c0011t0010 a0001c0012t0002 a0001c0017t0001 a0001c0026t0006 a0001c0028t0041 a0001c0031t0020 a0001c0036t0001 a0001c0044t0001 a0001c0045t0001 a0001c0048t0001 a0001c0049t0045 a0001c0054t0001 a0001c0056t0004 a0002c0050t0005 a0003c0022t0001 a0004c0033t0001 a0005c0041t0001 a0006c0039t0036 a0007c0047t0001 a0009c0032t0001 a0010c0029t0001	a0001c0001t0002g0249 a0001c0001t0004g0057 a0001c0001t0004g0168 others(219): Show a0001c0001t0002g0249 a0001c0001t0004g0057 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0253 a0001c0001t0004g0258 a0001c0001t0004g0354 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0004g0388 a0001c0001t0004g0390 a0001c0001t0004g0391 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0130 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0265 a0001c0001t0007g0122 a0001c0001t0009g0099 a0001c0001t0009g0170 a0001c0001t0009g0186 a0001c0001t0009g0215 a0001c0001t0010g0271 a0001c0001t0011g0182 a0001c0001t0011g0194 a0001c0001t0011g0202 a0001c0001t0011g0205 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0231 a0001c0001t0011g0232 a0001c0001t0011g0268 a0001c0001t0014g0149 a0001c0001t0014g0152 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0016g0145 a0001c0001t0016g0147 a0001c0001t0016g0169 a0001c0001t0043g0115 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0332 a0001c0002t0002g0334 a0001c0002t0002g0351 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0002t0002g0383 a0001c0002t0039g0320 a0001c0003t0001g0001 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0053 a0001c0003t0001g0060 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0177 a0001c0003t0001g0214 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0240 a0001c0003t0001g0252 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0003t0001g0275 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0307 a0001c0003t0001g0358 a0001c0003t0019g0175 a0001c0003t0019g0176 a0001c0003t0020g0361 a0001c0003t0032g0022 a0001c0003t0033g0056 a0001c0003t0034g0277 a0001c0003t0035g0075 a0001c0003t0037g0065 a0001c0005t0002g0138 a0001c0005t0002g0143 a0001c0005t0002g0274 a0001c0005t0004g0325 a0001c0005t0006g0120 a0001c0005t0006g0135 a0001c0005t0007g0010 a0001c0005t0007g0127 a0001c0005t0007g0172 a0001c0005t0007g0173 a0001c0005t0007g0174 a0001c0005t0007g0269 a0001c0005t0007g0283 a0001c0005t0007g0284 a0001c0005t0007g0285 a0001c0005t0007g0393 a0001c0005t0007g0394 a0001c0005t0007g0395 a0001c0005t0007g0396 a0001c0005t0030g0037 a0001c0005t0049g0403 a0001c0006t0004g0137 a0001c0006t0004g0308 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0006t0007g0319 a0001c0006t0009g0190 a0001c0006t0009g0316 a0001c0006t0009g0371 a0001c0006t0010g0061 a0001c0006t0010g0392 a0001c0006t0014g0184 a0001c0006t0021g0327 a0001c0008t0001g0132 a0001c0008t0001g0151 a0001c0008t0001g0153 a0001c0008t0001g0178 a0001c0008t0001g0189 a0001c0008t0001g0191 a0001c0008t0001g0192 a0001c0008t0001g0267 a0001c0008t0031g0179 a0001c0011t0010g0020 a0001c0011t0010g0023 a0001c0011t0010g0116 a0001c0011t0010g0300 a0001c0011t0010g0357 a0001c0011t0010g0379 a0001c0011t0010g0389 a0001c0012t0002g0384 a0001c0017t0001g0273 a0001c0017t0001g0276 a0001c0017t0001g0278 a0001c0017t0001g0282 a0001c0026t0006g0111 a0001c0026t0006g0114 a0001c0028t0041g0368 a0001c0031t0020g0126 a0001c0036t0001g0033 a0001c0044t0001g0148 a0001c0045t0001g0072 a0001c0048t0001g0380 a0001c0049t0045g0234 a0001c0054t0001g0199 a0001c0056t0004g0229 a0002c0050t0005g0244 a0003c0022t0001g0342 a0003c0022t0001g0343 a0004c0033t0001g0042 a0005c0041t0001g0163 a0006c0039t0036g0054 a0007c0047t0001g0243 a0009c0032t0001g0043 a0010c0029t0001g0366	223	406	0.5493	-164	c.265 others(19): Show c.2653-2045_2653-1882del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855916	CTCCCTCC others(157): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCT TCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCTCCCTCC CCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(117): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0027 a0001c0035 a0001c0040 a0001c0043 a0001c0044 a0001c0048 a0001c0049 a0001c0053 a0001c0055 a0002c0007 a0002c0024 a0002c0034 a0002c0046 a0004c0033 a0008c0051	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(43): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002 a0001c0002t0015 a0001c0002t0039 a0001c0003t0001 a0001c0004t0003 a0001c0005t0002 a0001c0005t0004 a0001c0005t0007 a0001c0006t0004 a0001c0006t0007 a0001c0006t0009 a0001c0006t0013 a0001c0006t0021 a0001c0008t0001 a0001c0009t0008 a0001c0009t0024 a0001c0010t0012 a0001c0010t0026 a0001c0012t0002 a0001c0013t0001 a0001c0014t0023 a0001c0017t0001 a0001c0019t0002 a0001c0020t0021 a0001c0021t0003 a0001c0023t0003 a0001c0027t0005 a0001c0027t0048 a0001c0035t0002 a0001c0040t0005 a0001c0043t0001 a0001c0044t0001 a0001c0048t0001 a0001c0049t0045 a0001c0053t0018 a0001c0055t0005 a0002c0007t0005 a0002c0024t0005 a0002c0034t0005 a0002c0046t0040 a0004c0033t0001 a0008c0051t0003	a0001c0001t0006g0119 a0001c0001t0006g0130 a0001c0001t0006g0290 others(116): Show a0001c0001t0006g0119 a0001c0001t0006g0130 a0001c0001t0006g0290 a0001c0001t0009g0186 a0001c0001t0014g0149 a0001c0001t0014g0152 a0001c0001t0016g0145 a0001c0001t0016g0147 a0001c0001t0016g0169 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0251 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0334 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0341 a0001c0002t0002g0356 a0001c0002t0002g0377 a0001c0002t0002g0378 a0001c0002t0015g0003 a0001c0002t0015g0398 a0001c0002t0039g0320 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0238 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0003t0001g0275 a0001c0003t0001g0358 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0209 a0001c0004t0003g0211 a0001c0004t0003g0212 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0250 a0001c0004t0003g0264 a0001c0004t0003g0266 a0001c0004t0003g0317 a0001c0004t0003g0352 a0001c0004t0003g0374 a0001c0005t0002g0138 a0001c0005t0002g0274 a0001c0005t0004g0325 a0001c0005t0007g0172 a0001c0005t0007g0269 a0001c0005t0007g0283 a0001c0005t0007g0284 a0001c0005t0007g0285 a0001c0005t0007g0393 a0001c0005t0007g0394 a0001c0005t0007g0395 a0001c0005t0007g0396 a0001c0006t0004g0308 a0001c0006t0007g0319 a0001c0006t0009g0190 a0001c0006t0009g0371 a0001c0006t0013g0063 a0001c0006t0021g0327 a0001c0008t0001g0151 a0001c0008t0001g0153 a0001c0008t0001g0189 a0001c0009t0008g0262 a0001c0009t0008g0286 a0001c0009t0008g0363 a0001c0009t0008g0364 a0001c0009t0024g0323 a0001c0009t0024g0333 a0001c0010t0012g0013 a0001c0010t0026g0005 a0001c0010t0026g0011 a0001c0012t0002g0279 a0001c0012t0002g0375 a0001c0012t0002g0376 a0001c0012t0002g0384 a0001c0012t0002g0385 a0001c0013t0001g0183 a0001c0013t0001g0185 a0001c0014t0023g0156 a0001c0014t0023g0157 a0001c0017t0001g0273 a0001c0017t0001g0276 a0001c0017t0001g0278 a0001c0017t0001g0282 a0001c0019t0002g0162 a0001c0020t0021g0255 a0001c0021t0003g0213 a0001c0021t0003g0239 a0001c0023t0003g0324 a0001c0027t0005g0256 a0001c0027t0048g0263 a0001c0035t0002g0019 a0001c0040t0005g0105 a0001c0043t0001g0291 a0001c0044t0001g0148 a0001c0048t0001g0380 a0001c0049t0045g0234 a0001c0053t0018g0292 a0001c0055t0005g0121 a0002c0007t0005g0198 a0002c0007t0005g0233 a0002c0024t0005g0181 a0002c0034t0005g0299 a0002c0046t0040g0125 a0004c0033t0001g0042 a0008c0051t0003g0196	120	406	0.2956	-164	c.285 others(17): Show c.285+1096_286-1099del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKG1_chr10_51069487_52303350	51858152	TATAATAT others(157): Show TATAATATATATTATATATATACATATTATACATATATATAATATATATT ATATATATACATATTATACATATATATAATATATATTATATATAATACAT ATTATACATATATATAATATTATACATATGTATAATTATACATATGTATA ATATATATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	64	0.0156	-164	c.699 others(19): Show c.699-49351_699-49188del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRMT8_chr12_3486203_3598973	3555780	AGGACCTG others(157): Show AGGACCTGAGGGTGCATTGAGTGTGGGGATGAGAAAAAAGAGAGAAGCAA GGATTCTTTTTGACTTGGGCAACTGGGTGGATGGGACCTGAGGATGCATT GAGTGTGGGGATGAGAAAAAAGAGAGAAGCAAGGATTCTTTTTGACTTGG GAAACTGGGTGGATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(123): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0032 others(123): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0002g0209 a0001c0001t0003g0028 a0001c0001t0004g0013 a0001c0001t0004g0038 a0001c0001t0004g0193 a0001c0001t0006g0346 a0001c0001t0007g0325 a0001c0001t0010g0302 a0001c0002t0002g0134 a0001c0002t0002g0228 a0001c0002t0002g0234 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0309 a0001c0002t0005g0194 a0001c0002t0005g0195 a0001c0002t0009g0094 a0001c0003t0001g0076 a0001c0003t0001g0291 a0001c0009t0001g0250	126	364	0.3462	-164	c.481 others(17): Show c.481+2077_481+2240del	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3555791	GTGCATTG others(157): Show GTGCATTGAGTGTGGGGATGAGAAAAAAGAGAGAAGCAAGGATTCTTTTT GACTTGGGCAACTGGGTGGATGGGACCTGAGGATGCATTGAGTGTGGGGA TGAGAAAAAAGAGAGAAGCAAGGATTCTTTTTGACTTGGGAAACTGGGTG GATGGGACCTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00642.hp1 others(49): Show HG00280.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18951.hp2 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA19004.hp1 NA19005.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0042 others(49): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0332 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0363 a0001c0001t0003g0060 a0001c0001t0014g0002 a0001c0002t0002g0041 a0001c0002t0002g0106 a0001c0003t0001g0354 a0001c0004t0001g0314 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0334 a0001c0006t0001g0043	52	364	0.1429	-164	c.481 others(17): Show c.481+2150_481+2313del	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRG_chr3_61556571_62302609	61569784	GATCAGCA others(157): Show GATCAGCATGGGGACATTCTATGTAAGATTACTAACAGGTTACATTTTGA GGTTTAAATAAATGAGAAAGTCCTCATGAAGTCTGAGATATCACCTTGCC CACATTGCAAAGGAGGTCTCTGCTTTCTCAGCTTAAAGTGGGAAAAATGC TTTCTGTGGGCTTAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	94	0.0106	-164	c.85+ others(15): Show c.85+7414_85+7577del	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF139_chr8_124469880_124493618	124482949	TATATATA others(157): Show TATATATATAATATATATATATTATTTAAATATATATATATTTAAAAATA TATATATTAAAAATATATATATATATTTAAATATATATATATTTAAAAAT ATATCTATTAAAAATATATATATATTATTTAAATATATATATATTTAAAA ATATATATATTAAAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	408	0.0025	-164	c.182 others(17): Show c.182-2872_182-2709del	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPS6KA6_chrX_84053350_84193199	84191577	TATATATA others(157): Show TATATATATATATCCATATATATATCCATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	272	0.0037	-164	c.-38 others(11): Show c.-3842_-3679del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3379		chrX	TogoVar
SCFD2_chr4_52867982_53371061	53139372	AGTCTGGG others(157): Show AGTCTGGGAAGTGAGGAGCGCCTCTTCCCGGCTGCCGGCCGTCATCCTGT CTAGGAAGTGAGGAGTGTCTCTGCCCCGCCGCCACCCCGTCTGGGAGGTG AGGAGCGTCTCTGACCGGCCGCCCAGTCTGAGAAGTGAGGAGCCCCTCTG CCCGGCAGCTGCCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01169.hp2 others(19): Show HG00140.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01884.hp1 HG02004.hp1 HG02145.hp2 HG02300.hp1 HG02602.hp2 HG02922.hp1 HG03130.hp1 HG03704.hp2 NA18971.hp1 NA18978.hp1 NA19066.hp2 NA19087.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0010 a0002c0002 a0002c0006 a0005c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 a0005c0010t0001	a0002c0002t0001g0032 a0002c0002t0001g0082 a0002c0002t0001g0085 others(19): Show a0002c0002t0001g0032 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0002g0050 a0002c0002t0002g0058 a0002c0002t0002g0093 a0002c0002t0008g0097 a0002c0002t0011g0090 a0002c0006t0001g0098 a0002c0006t0003g0083 a0002c0006t0003g0084 a0002c0006t0005g0089 a0002c0006t0005g0102 a0002c0006t0005g0103 a0005c0010t0001g0001	22	162	0.1358	-164	c.156 others(19): Show c.1561+5797_1561+5960del	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(157): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0128 a0004c0005t0006g0128	1	290	0.0035	-164	c.166 others(17): Show c.1662+240_1662+403del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETX_chr9_132256356_132359986	132269836	CGAGACAC others(157): Show CGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACA GGTGGATTCTAGAATGACTCAGCATCCTCATGTGAGACACAGGTGGACTC TAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGACTCTAGAATGAC TCAGCATCCTCATGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp2 HG00738.hp1 HG01981.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0259 a0009c0010t0002g0313 a0009c0010t0002g0259 a0009c0010t0002g0313	2	362	0.0055	-164	c.720 others(17): Show c.7200-298_7200-135del	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	24/25			chr9	TogoVar
SGTA_chr19_2749715_2788273	2772765	ATGGGTGA others(157): Show ATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAAATGGGTGACGCGGCCACAGGGCAGGGA CACCGAGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18967.hp1 HG02135.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	2	396	0.0051	-164	c.-23 others(17): Show c.-23-3838_-23-3675del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772817	GGCCACAG others(157): Show GGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACAGG GCAGGGACACCGAGGGCAGAAATGGGTGACGCGGCCACAGGGCAGGGACA CCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCA GAGGTGGGTGACGCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 NA18906.hp1 HG03098.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0206 a0001c0003t0006g0325 a0001c0003t0006g0326 a0001c0003t0006g0206 a0001c0003t0006g0325 a0001c0003t0006g0326	3	396	0.0076	-164	c.-23 others(17): Show c.-23-3890_-23-3727del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773162	TCCGAGGG others(157): Show TCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGC AGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGG TGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGC CACACGGCGGGGACA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18988.hp2 NA18970.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0084 a0001c0003t0003g0052 a0001c0002t0002g0084 a0001c0003t0003g0052	2	396	0.0051	-164	c.-23 others(17): Show c.-23-4235_-23-4072del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773566	AGGGACAC others(157): Show AGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCC GAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02451.hp1 others(5): Show HG00423.hp1 HG00673.hp2 HG02451.hp1 HG03486.hp1 NA18953.hp2 NA18994.hp1 NA19080.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 others(2): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0003 a0001c0005t0002	a0001c0002t0002g0080 a0001c0002t0002g0083 a0001c0002t0002g0091 others(5): Show a0001c0002t0002g0080 a0001c0002t0002g0083 a0001c0002t0002g0091 a0001c0002t0002g0114 a0001c0003t0003g0153 a0001c0003t0005g0334 a0001c0004t0003g0131 a0001c0005t0002g0068	8	396	0.0202	-164	c.-23 others(17): Show c.-23-4639_-23-4476del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773644	GGGCAGGG others(157): Show GGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGA CACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGG CAGAGGTGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGG GTGACGCGGCCACAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19043.hp2 HG02486.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0179 a0001c0009t0010g0180 a0001c0009t0010g0179 a0001c0009t0010g0180	2	396	0.0051	-164	c.-23 others(17): Show c.-23-4717_-23-4554del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHOX_chrX_625791_656584	647673	GAGACAGG others(157): Show GAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCAC CAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCT CCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTC TGGTATTTTTAGTAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0057 a0001c0001t0065g0057	1	220	0.0046	-164	c.32 others(11): Show c.3201_*3364del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3201	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	648014	GGCCTCCC others(157): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCTGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0196	a0001c0001t0196g0158 a0001c0001t0196g0158	1	220	0.0046	-164	c.34 others(11): Show c.3447_*3610del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3447	INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC22A1_chr6_160116815_160163718	160126592	CTGGTGCT others(157): Show CTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCCT GGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGA GGTCCACTGGGGAGGGATGTGGGCAGTTTCCTGGCTTTTGACTCTCCCAA CAAGAGGATCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0183 a0002c0003t0001g0183	1	416	0.0024	-164	c.412 others(17): Show c.412-3404_412-3241del	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC24A2_chr9_19502455_19794037	19563684	TCCTCCCT others(157): Show TCCTCCCTCCCTCCCTTACTTCCTTTTCCAACAATCTGTAACAAAACTGT TGGTTTTTATAATGACCCTTCCTTCCTTTCATCTGTAACAAAACTGTTGG TTTTTATAATGACCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp2 HG01884.hp1 others(12): Show HG00639.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA19043.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0005c0026 a0007c0027	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0024 a0001c0001t0030 a0001c0001t0035 a0001c0001t0058 a0001c0001t0074 a0001c0002t0013 a0001c0002t0015 a0001c0005t0010 a0001c0012t0021 a0005c0026t0021 a0007c0027t0015	a0001c0001t0003g0006 a0001c0001t0004g0046 a0001c0001t0020g0132 others(12): Show a0001c0001t0003g0006 a0001c0001t0004g0046 a0001c0001t0020g0132 a0001c0001t0024g0078 a0001c0001t0030g0001 a0001c0001t0035g0059 a0001c0001t0058g0106 a0001c0001t0074g0013 a0001c0002t0013g0024 a0001c0002t0015g0119 a0001c0002t0015g0157 a0001c0005t0010g0060 a0001c0012t0021g0152 a0005c0026t0021g0149 a0007c0027t0015g0161	15	188	0.0798	-164	c.134 others(19): Show c.1347+9503_1347+9666del	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC39A11_chr17_72640949_73097688	72669879	CACGTATA others(157): Show CACGTATAGATGTATATACACATATATATACGTATAGATGTATATACACA TATATACGTATAGATGTATATACACATATATATACGTATAGATGTATATA CACATATATACGTATAGATGTATATACACATATATATACGTATAGATGTA TATACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	180	0.0056	-164	c.672 others(19): Show c.672-20775_672-20612del	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168654473	TACCTGAG others(157): Show TACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGA ACTCACCAACCCTGC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	180	0.0056	-164	c.128 others(19): Show c.1285+1262_1285+1425del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654514	TACCTGAG others(157): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGA ACTCACCAACCCTGC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	180	0.0056	-164	c.128 others(19): Show c.1285+1875_1285+2038del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS1_chr10_106568663_107169706	106666029	ACAGGTTT others(157): Show ACAGGTTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCACCTCACCCTCCCGAAATGCTGAGATTACAGGCGTGAGCCAC TGCACCCGGCCACTTCTATGTATTTTTAAATGAGATTAACATTTAAGTCA GTAGACTGAGTAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0021 a0001c0001t0020g0021	1	130	0.0077	-164	c.230 others(19): Show c.2303+1496_2303+1659del	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	17/25			chr10	TogoVar
SSH2_chr17_29620938_29935228	29895709	ATATAAAA others(157): Show ATATAAAATATATTTTATATACACATTTCATATATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAA ATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACAT TTCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0010 a0011c0012t0010	a0011c0012t0010g0133 a0011c0012t0010g0133	1	232	0.0043	-164	c.63+ others(17): Show c.63+34065_63+34228del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STK32B_chr4_5046480_5505989	5353298	TACTGGAA others(157): Show TACTGGAAGAAAACAAGGAAAACAATTCAGGATATTGCTCTAGGCAAAGA TTTGATGACTAAGACCTCAAGCACAGACAATGGAAATGAAAATAGACAAA TGGTACTATATTAAACTAAAAAGCTTCTTCACAACAAAGGAAGCAATTAA TACAGTGAAGAGGCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG03471.hp1 others(2): Show HG02559.hp1 HG02717.hp1 HG03471.hp1 HG03471.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 others(1): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0002c0002t0001	a0001c0001t0014g0148 a0001c0001t0017g0029 a0001c0001t0021g0134 others(2): Show a0001c0001t0014g0148 a0001c0001t0017g0029 a0001c0001t0021g0134 a0002c0002t0001g0145 a0002c0002t0001g0160	5	170	0.0294	-164	c.434 others(19): Show c.434+21908_434+22071del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(157): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACATATATATATATATATATATATA TATATATATACACAC	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19067.hp2 NA18964.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0184 a0001c0001t0003g0185 a0001c0001t0002g0184 a0001c0001t0003g0185	2	414	0.0048	-164	c.106 others(17): Show c.106+2866_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48668206	ACCGCGTC others(157): Show ACCGCGTCTTCACTGGGAACTGTAATCCCCCAGCACTCAGGGCCGCGTCT TCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGGA GTGTTAATCCCCCAGCACTCAGGGCCGCATCTTCACTGGGAGCTGTAGTC CCCCAGCACTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG03471.hp2 HG01109.hp2 HG02622.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0028 a0001c0001t0004 a0001c0001t0012 a0001c0001t0028	a0001c0001t0004g0189 a0001c0001t0012g0192 a0001c0001t0028g0018 a0001c0001t0004g0189 a0001c0001t0012g0192 a0001c0001t0028g0018	3	258	0.0116	-164	c.262 others(19): Show c.262+21478_262+21641del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TFB1M_chr6_155251134_155319484	155305190	ATATATTT others(157): Show ATATATTTATATATATATTAAATTATATATTTATATATATATATTAAATT ATATATTTATATATATATTAAATTATATATTTATATATATATATTAAATT ATATATTTATATATATAAACATATATTAAATTATATATTTATATATATAA ATATATATTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0179 a0001c0001t0014g0179	1	348	0.0029	-164	c.285 others(17): Show c.285+5834_285+5997del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFCP2L1_chr2_121211587_121290202	121225876	CGGTAAAC others(157): Show CGGTAAACACCACTGCCACGGTGTCCACACACACGGGAACGTGGTAAACA CCACTGCCACGGTGTCTACACACACGGGAACACGGTAAACACCACTGCCA CGGTGCCCACACACACGGGAACACGGTAAACACCACTGCCACGGTGTCCA TACACACGGGAACGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 HG03195.hp2 others(2): Show HG02809.hp1 HG03130.hp1 HG03195.hp2 HG03942.hp2 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0021 a0001c0002t0079 a0001c0008t0082 others(1): Show a0001c0002t0021 a0001c0002t0079 a0001c0008t0082 a0001c0008t0083	a0001c0002t0021g0008 a0001c0002t0021g0015 a0001c0002t0079g0246 others(2): Show a0001c0002t0021g0008 a0001c0002t0021g0015 a0001c0002t0079g0246 a0001c0008t0082g0350 a0001c0008t0083g0348	5	378	0.0132	-164	c.134 others(17): Show c.1342-427_1342-264del	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291931	ATGTCCCT others(157): Show ATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCC CTCCGTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	284	0.0035	-164	c.121 others(17): Show c.1214+404_1214+567del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UVSSA_chr4_1342208_1393049	1357096	CGGGGCTG others(157): Show CGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCCCCTCCA GCTGGTTATTGGTGAGGGTCCATAGAGCAGAGCGGGGCTGATGGGTGGCA TGGTCTGGTCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGG TCCACAGAGCAGAGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02717.hp2 others(5): Show HG01891.hp2 HG02572.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG03471.hp2 HG03540.hp2 NA20300.hp1	a0004 a0016 a0004 a0016	a0004c0006 a0016c0028 a0004c0006 a0016c0028	a0004c0006t0006 a0004c0006t0009 a0004c0006t0012 others(2): Show a0004c0006t0006 a0004c0006t0009 a0004c0006t0012 a0004c0006t0020 a0016c0028t0009	a0004c0006t0006g0168 a0004c0006t0009g0039 a0004c0006t0009g0042 others(5): Show a0004c0006t0006g0168 a0004c0006t0009g0039 a0004c0006t0009g0042 a0004c0006t0009g0043 a0004c0006t0012g0288 a0004c0006t0020g0040 a0004c0006t0020g0041 a0016c0028t0009g0044	8	400	0.0200	-164	c.117 others(19): Show c.1176+1906_1176+2069del	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
XXYLT1_chr3_195063284_195276159	195272776	TCTGTCTC others(157): Show TCTGTCTCAAAAAAAAAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGC AATTCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGA GGCAGAGGATGCAGTGAGCCGAGATCATAACACTGCACTCCAGCCTGGGC GACAAGAGCAAAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0027 a0001c0001t0002 a0001c0001t0010 a0001c0001t0027	a0001c0001t0002g0032 a0001c0001t0010g0031 a0001c0001t0027g0055 a0001c0001t0002g0032 a0001c0001t0010g0031 a0001c0001t0027g0055	3	198	0.0152	-164	c.-18 others(11): Show c.-1882_-1719del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1618		chr3	TogoVar
ZNF283_chr19_43822321_43857017	43822509	GCAGTGAG others(157): Show GCAGTGAGCTGAGATCACGCCATTGAACTCCAACCTGGGCAACAAGAGCA AAACTCTGTCTCAAAGAAATAAAAAAGAATCTACTGAATTGTACACTTTA AATGGGTGAGTTTTAGAGTATATGAATTATATCTCAGTAAAAGTATTACA GAAAAGCAATAATCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02717.hp2 NA18522.hp1 HG01243.hp1 HG02717.hp2 NA18522.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0015 a0007c0009t0001g0015	3	396	0.0076	-164	c.-50 others(11): Show c.-5079_-4916del	ZNF283	ENSG00000167637.18	transcript	ENST00000618787.5	protein_coding		4811		chr19	TogoVar

Search by Variant

Search

Search Results