Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TRPM2_chr21_44348621_44447644	44403540	ATAGGCAC others(85): Show ATAGGCACACACACATACATACATGCATATGTACACACATACATGCACAC ACATGCACACAGTACACACATAGGCACACACATTCATGCATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	44	0.0227	-92	c.253 others(111): Show c.2539-1601_2539-1510delTAGGCACACACACATACATACATGCA TATGTACACACATACATGCACACACATGCACACAGTACACACATAGGCAC ACACATTCATGCATAT	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	16/31			chr21	TogoVar
TSHZ1_chr18_75205797_75294944	75249629	GTGACTTC others(85): Show GTGACTTCCTCCTCCTCAACTCACCCATGCAGTAGGTGGGGGACGTATGA CCTCCTCCCTGCCTCACTCCTGCAGTAGGTAGGGGTGAGGGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01952.hp2 others(3): Show HG01081.hp1 HG01175.hp2 HG01952.hp2 HG03041.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0044 a0002c0003t0002 others(3): Show a0001c0001t0008 a0001c0001t0044 a0002c0003t0002 a0002c0003t0008 a0002c0003t0057 a0002c0003t0059	a0001c0001t0008g0302 a0001c0001t0044g0278 a0002c0003t0002g0087 others(3): Show a0001c0001t0008g0302 a0001c0001t0044g0278 a0002c0003t0002g0087 a0002c0003t0008g0120 a0002c0003t0057g0121 a0002c0003t0059g0310	6	326	0.0184	-92	c.41- others(109): Show c.41-35801_41-35710delACTCACCCATGCAGTAGGTGGGGGACGT ATGACCTCCTCCCTGCCTCACTCCTGCAGTAGGTAGGGGTGAGGGTATGA CTTCCTCCTCCTCA	TSHZ1	ENSG00000179981.11	transcript	ENST00000580243.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr18	TogoVar
TULP4_chr6_158307465_158516828	158491416	TCTTTCTT others(85): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0047 a0001c0049 a0001c0047 a0001c0049	a0001c0047t0070 a0001c0049t0086 a0001c0047t0070 a0001c0049t0086	a0001c0047t0070g0159 a0001c0049t0086g0181 a0001c0047t0070g0159 a0001c0049t0086g0181	2	268	0.0075	-92	c.163 others(111): Show c.1631+1685_1631+1776delCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13			chr6	TogoVar
TXK_chr4_48061393_48139250	48104272	TAATATAT others(85): Show TAATATATAATATATATAATATATAATATAATATATAATATATATAATAT ATAATATAATATATAATATATATAATATATAATATAATATATA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0085 a0002c0003t0001g0085	1	362	0.0028	-92	c.501 others(107): Show c.501+537_501+628delTATATATTATATTATATATTATATATATTA TATATTATATTATATATTATATATATTATATATTATATTATATATTATAT ATATTATATATT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TYMS_chr18_652653_678578	667280	GGATGGTG others(85): Show GGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0109 a0001c0002t0005g0109	1	482	0.0021	-92	c.455 others(109): Show c.455-1791_455-1700delGATGGTGATGGAGATGGTGATGGTGATG GTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT GATGGAGATGGTGA	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
VCX3B_chrX_8459830_8471510	8466909	AGGGAGGG others(85): Show AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp2 others(18): Show HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG01081.hp2 HG01255.hp1 HG01256.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02738.hp1 HG02922.hp2 HG03710.hp1 NA18940.hp1 NA18942.hp1 NA18967.hp1 NA18974.hp1 NA19065.hp2 NA19078.hp1 NA19088.hp1 NA20129.hp2	a0004 a0009 a0010 others(11): Show a0004 a0009 a0010 a0027 a0030 a0053 a0055 a0060 a0062 a0064 a0069 a0070 a0078 a0079	a0004c0004 a0004c0033 a0009c0009 others(12): Show a0004c0004 a0004c0033 a0009c0009 a0010c0011 a0027c0030 a0030c0076 a0053c0067 a0055c0063 a0060c0093 a0062c0074 a0064c0085 a0069c0078 a0070c0077 a0078c0072 a0079c0068	a0004c0004t0004 a0004c0004t0013 a0004c0033t0004 others(13): Show a0004c0004t0004 a0004c0004t0013 a0004c0033t0004 a0009c0009t0003 a0010c0011t0004 a0027c0030t0004 a0030c0076t0011 a0053c0067t0013 a0055c0063t0004 a0060c0093t0004 a0062c0074t0022 a0064c0085t0004 a0069c0078t0004 a0070c0077t0011 a0078c0072t0004 a0079c0068t0013	a0004c0004t0004g0002 a0004c0004t0013g0002 a0004c0033t0004g0002 others(14): Show a0004c0004t0004g0002 a0004c0004t0013g0002 a0004c0033t0004g0002 a0009c0009t0003g0044 a0010c0011t0004g0002 a0027c0030t0004g0024 a0027c0030t0004g0025 a0030c0076t0011g0018 a0053c0067t0013g0002 a0055c0063t0004g0048 a0060c0093t0004g0002 a0062c0074t0022g0059 a0064c0085t0004g0003 a0069c0078t0004g0002 a0070c0077t0011g0018 a0078c0072t0004g0002 a0079c0068t0013g0002	21	271	0.0775	-92	c.52 others(101): Show c.527_*618delGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGG TGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11573235	AAAAGAAA others(85): Show AAAAGAAATAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18960.hp1 NA18995.hp2 others(2): Show HG01109.hp1 NA18960.hp1 NA18995.hp2 NA19010.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0014 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0004t0003 a0001c0004t0027 a0002c0006t0005	a0001c0001t0001g0144 a0001c0001t0014g0098 a0001c0004t0003g0330 others(2): Show a0001c0001t0001g0144 a0001c0001t0014g0098 a0001c0004t0003g0330 a0001c0004t0027g0158 a0002c0006t0005g0007	5	388	0.0129	-92	c.273 others(109): Show c.273-8308_273-8217delCTTTCTTTCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTATTTCTTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VPS53_chr17_503668_719839	513630	CCATTTCC others(85): Show CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01109.hp2 others(45): Show HG00423.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA18987.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 others(27): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0087 a0001c0001t0088 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0105 a0001c0001t0111 a0001c0001t0112 a0001c0001t0127 a0001c0002t0005 a0001c0002t0007 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0058 a0001c0002t0086 a0002c0003t0008 a0002c0003t0009 a0002c0003t0027 a0002c0003t0085 a0002c0003t0090 a0002c0003t0092 a0002c0003t0093 a0002c0003t0104 a0002c0003t0150 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(45): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0097g0199 a0001c0001t0105g0201 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0127g0159 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0048g0089 a0001c0002t0049g0048 a0001c0002t0050g0049 a0001c0002t0058g0052 a0001c0002t0086g0221 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0085g0184 a0002c0003t0090g0171 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0104g0208 a0002c0003t0150g0191 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0030	48	232	0.2069	-92	c.54 others(103): Show c.5406_*5497delAGATTCCTTCCCTAGGAAGAGCACTCGGAATAAC CTGCTGGAAATGGGATTCCTTCGCTAGGAAGAGCACTCGGAATAACCTGC TGGAAATG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5406		chr17	TogoVar
VPS53_chr17_503668_719839	513814	CCATTTCC others(85): Show CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG03516.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0078 a0001c0014t0135 a0001c0002t0078 a0001c0014t0135	a0001c0002t0078g0041 a0001c0014t0135g0166 a0001c0002t0078g0041 a0001c0014t0135g0166	2	232	0.0086	-92	c.52 others(103): Show c.5222_*5313delAGATTCCTTCGCTAGGAAGAGCACTCGGAATAAC CTGCTGGAAATGGGATTCCTTCGCTAGGAAGAGCACTCGGAATAACCTGC TGGAAATG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5222		chr17	TogoVar
VPS53_chr17_503668_719839	514218	CGAAGGAA others(85): Show CGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA GGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0051 a0001c0011t0051	a0001c0011t0051g0091 a0001c0011t0051g0091	1	232	0.0043	-92	c.48 others(103): Show c.4818_*4909delCCTAGGAAGAGCACTCGGAATAACCTGCTGGAAA TGGGGTTCCTTCCCTAGGAAGAGCACTCGGAATAACCTGCTGGAAATGGG GTTCCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	4818		chr17	TogoVar
VPS53_chr17_503668_719839	612921	CACAGATA others(85): Show CACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACC TGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0147 a0001c0001t0098g0147	1	232	0.0043	-92	c.111 others(113): Show c.1116+10520_1116+10611delACAGGTTTTCACTGTGTGAACTCA CTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTGAAT ACTGCTGTGAATATCTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	657939	GCACTAAA others(85): Show GCACTAAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGATACATCCCAC TAAAGTGAGATACTCGGCCGTGAGTTCGTGGATAGATACATCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(127): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0015 a0002c0003 a0002c0010 a0004c0008 a0005c0009 a0006c0012 a0007c0013	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(94): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0069 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0127 a0001c0001t0128 a0001c0001t0134 a0001c0001t0138 a0001c0001t0141 a0001c0002t0017 a0001c0002t0035 a0001c0002t0038 a0001c0002t0050 a0001c0002t0086 a0001c0002t0100 a0001c0002t0109 a0001c0002t0125 a0001c0002t0143 a0001c0002t0149 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0062 a0001c0007t0070 a0001c0015t0126 a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0085 a0002c0003t0089 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0104 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0002c0003t0150 a0002c0010t0038 a0004c0008t0035 a0004c0008t0036 a0004c0008t0103 a0004c0008t0124 a0004c0008t0133 a0004c0008t0142 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0006c0012t0129 a0007c0013t0132	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(127): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0031g0153 a0001c0001t0031g0155 a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0126 a0001c0001t0034g0162 a0001c0001t0069g0012 a0001c0001t0084g0046 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0094g0129 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0097g0199 a0001c0001t0098g0147 a0001c0001t0101g0200 a0001c0001t0102g0220 a0001c0001t0105g0201 a0001c0001t0106g0117 a0001c0001t0107g0212 a0001c0001t0108g0148 a0001c0001t0110g0127 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0113g0122 a0001c0001t0114g0142 a0001c0001t0115g0136 a0001c0001t0116g0138 a0001c0001t0117g0230 a0001c0001t0118g0195 a0001c0001t0120g0211 a0001c0001t0121g0143 a0001c0001t0122g0160 a0001c0001t0123g0123 a0001c0001t0127g0159 a0001c0001t0128g0132 a0001c0001t0134g0154 a0001c0001t0138g0161 a0001c0001t0141g0165 a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0038g0224 a0001c0002t0050g0049 a0001c0002t0086g0221 a0001c0002t0100g0223 a0001c0002t0109g0222 a0001c0002t0125g0116 a0001c0002t0143g0226 a0001c0002t0149g0202 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0023g0109 a0001c0007t0062g0104 a0001c0007t0070g0112 a0001c0015t0126g0149 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0085g0184 a0002c0003t0089g0175 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0104g0208 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0003t0150g0191 a0002c0010t0038g0156 a0004c0008t0035g0203 a0004c0008t0036g0207 a0004c0008t0103g0227 a0004c0008t0124g0229 a0004c0008t0133g0232 a0004c0008t0142g0228 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0006c0012t0129g0140 a0007c0013t0132g0163	130	232	0.5603	-92	c.373 others(109): Show c.373-2078_373-1987delGGATGTATCTATCCACGAACTCACGGCC GAGTATCTCACTTTAGTGGGATGTATCTATCCACGAACTCCCTGCCGAGT TTCTCACTTTAGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VSIR_chr10_71742556_71778520	71760155	ATATATGT others(85): Show ATATATGTATATACATATATATGTGTGTATATATATGTATATACATATAT ATGTGTGTATATATGTGTATATATATGTATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0075 a0001c0008t0076 a0001c0008t0075 a0001c0008t0076	a0001c0008t0075g0245 a0001c0008t0076g0246 a0001c0008t0075g0245 a0001c0008t0076g0246	2	462	0.0043	-92	c.568 others(107): Show c.568+621_568+712delCATATATATGTATATACATATATATACACA TATATACACACATATATATGTATATACATATATATACACACATATATATG TATATACATATA	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
WDR27_chr6_169452212_169707029	169645694	GGTCACAC others(85): Show GGTCACACTGTAGAAAATCCTAGTTCATATGAGTCACACTGTAGAAAAGC CTAGTTCACAGGGTCACACTGTAGAAAAGCCTAGTTCACAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(25): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01081.hp2 HG01099.hp2 HG02004.hp2 HG02071.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03491.hp1 HG04184.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18957.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp1 NA19003.hp1 NA19012.hp2 NA19056.hp2 NA19066.hp1 NA19077.hp1 NA19086.hp1 NA19090.hp2	a0006 a0015 a0025 others(2): Show a0006 a0015 a0025 a0030 a0035	a0006c0005 a0015c0033 a0015c0045 others(3): Show a0006c0005 a0015c0033 a0015c0045 a0025c0034 a0030c0030 a0035c0028	a0006c0005t0004 a0006c0005t0010 a0015c0033t0001 others(4): Show a0006c0005t0004 a0006c0005t0010 a0015c0033t0001 a0015c0045t0008 a0025c0034t0001 a0030c0030t0004 a0035c0028t0013	a0006c0005t0004g0003 a0006c0005t0004g0005 a0006c0005t0004g0006 others(25): Show a0006c0005t0004g0003 a0006c0005t0004g0005 a0006c0005t0004g0006 a0006c0005t0004g0007 a0006c0005t0004g0009 a0006c0005t0004g0010 a0006c0005t0004g0011 a0006c0005t0004g0012 a0006c0005t0004g0013 a0006c0005t0004g0014 a0006c0005t0004g0015 a0006c0005t0004g0016 a0006c0005t0004g0017 a0006c0005t0004g0018 a0006c0005t0004g0019 a0006c0005t0004g0020 a0006c0005t0004g0021 a0006c0005t0004g0022 a0006c0005t0004g0023 a0006c0005t0004g0024 a0006c0005t0004g0032 a0006c0005t0004g0033 a0006c0005t0010g0034 a0015c0033t0001g0182 a0015c0045t0008g0262 a0025c0034t0001g0162 a0030c0030t0004g0008 a0035c0028t0013g0001	28	294	0.0952	-92	c.165 others(111): Show c.1657+1987_1658-1909delTTCTGTGAACTAGGCTTTTCTACAGT GTGACCCTGTGAACTAGGCTTTTCTACAGTGTGACTCATATGAACTAGGA TTTTCTACAGTGTGAC	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	16/25			chr6	TogoVar
WDR81_chr17_1719704_1743585	1741769	GACAGTGA others(85): Show GACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00738.hp2 others(26): Show HG00280.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02129.hp1 HG02145.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp2 NA18612.hp1 NA18979.hp1 NA18981.hp1 NA18995.hp2 NA19043.hp1 NA19055.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0002 a0001c0003 a0001c0017 others(4): Show a0001c0002 a0001c0003 a0001c0017 a0001c0022 a0001c0038 a0007c0048 a0011c0065	a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0017t0001 a0001c0022t0001 a0001c0038t0001 a0007c0048t0001 a0011c0065t0001	a0001c0002t0001g0085 a0001c0003t0001g0003 a0001c0003t0001g0029 others(12): Show a0001c0002t0001g0085 a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0092 a0001c0003t0006g0003 a0001c0003t0006g0030 a0001c0003t0006g0094 a0001c0017t0001g0071 a0001c0022t0001g0032 a0001c0038t0001g0003 a0007c0048t0001g0048 a0011c0065t0001g0100	29	431	0.0673	-92	c.40 others(103): Show c.4085_*4176delACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGAC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3185		chr17	TogoVar
WNT7B_chr22_45915366_45982162	45953134	CCGGCTTC others(85): Show CCGGCTTCCCCTCACAGCCACCGTGTCCGTGCCCGGCTTCCCCTCACAGC CACCGTGTCCGTGCCTGGCTTCCCCTCACAGTCACCGTGTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(121): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18954.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0001t0044 a0001c0001t0055 a0001c0001t0061 a0001c0001t0066 a0001c0001t0068 a0001c0003t0021 a0001c0003t0053 a0001c0004t0034 a0001c0005t0001 a0003c0006t0064	a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0174 others(121): Show a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0003g0056 a0001c0001t0003g0114 a0001c0001t0003g0136 a0001c0001t0004g0203 a0001c0001t0004g0232 a0001c0001t0005g0149 a0001c0001t0005g0180 a0001c0001t0005g0202 a0001c0001t0005g0227 a0001c0001t0005g0249 a0001c0001t0005g0279 a0001c0001t0005g0288 a0001c0001t0005g0293 a0001c0001t0005g0304 a0001c0001t0006g0025 a0001c0001t0006g0059 a0001c0001t0006g0088 a0001c0001t0006g0090 a0001c0001t0006g0107 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0328 a0001c0001t0009g0282 a0001c0001t0009g0285 a0001c0001t0010g0029 a0001c0001t0010g0063 a0001c0001t0010g0089 a0001c0001t0011g0155 a0001c0001t0011g0164 a0001c0001t0011g0233 a0001c0001t0012g0159 a0001c0001t0012g0329 a0001c0001t0012g0331 a0001c0001t0013g0286 a0001c0001t0014g0313 a0001c0001t0015g0027 a0001c0001t0015g0033 a0001c0001t0015g0129 a0001c0001t0018g0327 a0001c0001t0019g0244 a0001c0001t0022g0093 a0001c0001t0023g0014 a0001c0001t0024g0010 a0001c0001t0025g0322 a0001c0001t0026g0198 a0001c0001t0026g0340 a0001c0001t0028g0297 a0001c0001t0028g0298 a0001c0001t0029g0319 a0001c0001t0031g0004 a0001c0001t0036g0128 a0001c0001t0041g0130 a0001c0001t0044g0147 a0001c0001t0055g0176 a0001c0001t0061g0273 a0001c0001t0066g0345 a0001c0001t0068g0348 a0001c0003t0021g0311 a0001c0003t0053g0310 a0001c0004t0034g0011 a0001c0005t0001g0199 a0003c0006t0064g0343	124	350	0.3543	-92	c.72- others(107): Show c.72-3080_72-2989delAGGACACGGTGACTGTGAGGGGAAGCCAGG CACGGACACGGTGGCTGTGAGGGGAAGCCGGGCACGGACACGGTGGCTGT GAGGGGAAGCCG	WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding	1/3			chr22	TogoVar
ZC2HC1A_chr8_78661089_78724765	78687680	TTATATAT others(85): Show TTATATATATTTACGTAATACATTATATATATATTTACGTAATACATTAT ATATATTTATGTAATACATTATATATATTTACGTAAGACATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02818.hp1 others(2): Show HG02258.hp1 HG02647.hp2 HG02818.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0034 a0001c0003t0005g0178 a0001c0003t0005g0179 others(1): Show a0001c0003t0005g0034 a0001c0003t0005g0178 a0001c0003t0005g0179 a0001c0003t0005g0180	5	262	0.0191	-92	c.352 others(109): Show c.352+1104_352+1195delATTTACGTAATACATTATATATATTTAT GTAATACATTATATATATTTACGTAAGACATTATATATATATTTACGTAA TACATTATATATAT	ZC2HC1A	ENSG00000104427.13	transcript	ENST00000263849.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486761	TCACCACG others(85): Show TCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCATCAC CACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01346.hp2 others(1): Show HG00639.hp2 HG01074.hp2 HG01346.hp2 HG01975.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0007 a0004c0004t0001 a0004c0004t0007	a0004c0004t0001g0263 a0004c0004t0001g0264 a0004c0004t0001g0277 others(1): Show a0004c0004t0001g0263 a0004c0004t0001g0264 a0004c0004t0001g0277 a0004c0004t0007g0347	4	352	0.0114	-92	c.171 others(113): Show c.1716-11268_1716-11177delGTGGGGCCGTGTAGCGGGTGCTGT TCTGTGTCTGAGCTTCGTGGTGATGGGGTCGTGTAGCGGGTGCTGTTCTG TGTGTGAGCTTCGTGGTG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486807	TCACCACG others(85): Show TCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCACCAC CACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCAC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0283 a0004c0004t0001g0283	1	352	0.0028	-92	c.171 others(113): Show c.1716-11314_1716-11223delGTGGGGCCGTGTAGCGGGTGCTGT TCTGTGTCTGAGCTTCGTGGTGGTGGGGCCGTGTAGCGGGTGCTGTTCTG TGTCTGAGCTTCGTGGTG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486939	GCCCCACC others(85): Show GCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03017.hp1 HG02723.hp1 HG03017.hp1	a0009 a0013 a0009 a0013	a0009c0014 a0013c0016 a0009c0014 a0013c0016	a0009c0014t0001 a0013c0016t0002 a0009c0014t0001 a0013c0016t0002	a0009c0014t0001g0183 a0013c0016t0002g0052 a0009c0014t0001g0183 a0013c0016t0002g0052	2	352	0.0057	-92	c.171 others(113): Show c.1716-11446_1716-11355delTCGTGTAGCGGGTGCTGTTCTGTG TGTGAGCTTCGTGGTGATGGGGCCGTGTAGCGGGTGCTGTTCTGTGTCTG AGCTTCGTGGTGGTGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487196	GAACAGCA others(85): Show GAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCACACACAGAAC AGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18948.hp1 NA18953.hp2 others(4): Show HG03492.hp1 NA18948.hp1 NA18953.hp2 NA18962.hp2 NA19009.hp2 NA19065.hp1 NA19087.hp2	a0004 a0010 a0026 a0004 a0010 a0026	a0004c0004 a0010c0010 a0026c0049 a0004c0004 a0010c0010 a0026c0049	a0004c0004t0001 a0010c0010t0002 a0026c0049t0001 a0004c0004t0001 a0010c0010t0002 a0026c0049t0001	a0004c0004t0001g0250 a0010c0010t0002g0226 a0010c0010t0002g0227 others(4): Show a0004c0004t0001g0250 a0010c0010t0002g0226 a0010c0010t0002g0227 a0010c0010t0002g0228 a0010c0010t0002g0229 a0010c0010t0002g0230 a0026c0049t0001g0249	7	352	0.0199	-92	c.171 others(113): Show c.1716-11703_1716-11612delGTGTGTCTGAGCTTCGTGGTGGTG GGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGC CGTGTAGCGGGTGCTGTT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487466	GACACAGA others(85): Show GACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00735.hp1 others(43): Show HG00423.hp2 HG00558.hp1 HG00735.hp1 HG01074.hp1 HG01261.hp1 HG01361.hp1 HG02027.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG03017.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1	a0002 a0012 a0040 a0002 a0012 a0040	a0002c0002 a0002c0054 a0012c0012 others(1): Show a0002c0002 a0002c0054 a0012c0012 a0040c0052	a0002c0002t0001 a0002c0002t0002 a0002c0054t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0054t0001 a0012c0012t0002 a0040c0052t0001	a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 others(43): Show a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0320 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0346 a0002c0002t0002g0293 a0002c0002t0002g0300 a0002c0002t0002g0304 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0334 a0002c0002t0002g0342 a0002c0054t0001g0344 a0012c0012t0002g0294 a0012c0012t0002g0314 a0012c0012t0002g0345 a0040c0052t0001g0287	46	352	0.1307	-92	c.171 others(113): Show c.1716-11973_1716-11882delGTGAGCTTCGTGGTGATGGGGCCG TGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGATGGGGCCGTGTA GCGGGTGCTGTTCTGTGT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487583	GCCCCACC others(85): Show GCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCC CACCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	352	0.0028	-92	c.171 others(113): Show c.1716-12090_1716-11999delTCGTGTAGCGGGTGCTGTTCTGTG TGTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTG AGCTTCGTGGTGGTGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143488181	ACCCCATC others(85): Show ACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCC CATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(48): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG01975.hp1 HG02056.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02602.hp2 HG02698.hp1 HG03139.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp2 NA18985.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0010 a0025 a0026	a0001c0001 a0004c0004 a0005c0005 others(3): Show a0001c0001 a0004c0004 a0005c0005 a0010c0010 a0025c0050 a0026c0049	a0001c0001t0001 a0004c0004t0001 a0004c0004t0002 others(6): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0005c0005t0001 a0010c0010t0001 a0010c0010t0002 a0025c0050t0001 a0026c0049t0001	a0001c0001t0001g0063 a0004c0004t0001g0148 a0004c0004t0001g0251 others(48): Show a0001c0001t0001g0063 a0004c0004t0001g0148 a0004c0004t0001g0251 a0004c0004t0001g0252 a0004c0004t0001g0254 a0004c0004t0001g0255 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0001g0258 a0004c0004t0001g0259 a0004c0004t0001g0260 a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0264 a0004c0004t0001g0265 a0004c0004t0001g0266 a0004c0004t0001g0267 a0004c0004t0001g0269 a0004c0004t0001g0270 a0004c0004t0001g0271 a0004c0004t0001g0273 a0004c0004t0001g0274 a0004c0004t0001g0275 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0002g0268 a0004c0004t0002g0272 a0004c0004t0002g0284 a0004c0004t0007g0347 a0005c0005t0001g0187 a0005c0005t0001g0196 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0001g0214 a0010c0010t0001g0231 a0010c0010t0002g0226 a0010c0010t0002g0227 a0010c0010t0002g0228 a0010c0010t0002g0229 a0010c0010t0002g0230 a0025c0050t0001g0253 a0026c0049t0001g0249	51	352	0.1449	-92	c.171 others(113): Show c.1716-12688_1716-12597delCCGTGTAGCGGGTGCTGTTCTGTG TCTGAGCTTCGTGGTGATGGGGCTGTGTAGCGGGTGCTGTTCTGTGTGTG AGCTTCGTGGTGATGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZIM3_chr19_57129096_57150202	57137970	AGAAGGAA others(85): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0006 a0014c0019t0006	a0014c0019t0006g0121 a0014c0019t0006g0121	1	418	0.0024	-92	c.142 others(107): Show c.142+410_142+501delCTTCCTTCTTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTC	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZNF512B_chr20_63951704_63974930	63966021	TTCCCCGA others(85): Show TTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCC CTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(35): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0026 others(2): Show a0001c0003 a0001c0006 a0001c0026 a0001c0027 a0001c0029	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 a0001c0003t0021 a0001c0003t0023 a0001c0006t0002 a0001c0026t0001 a0001c0027t0001 a0001c0029t0001	a0001c0003t0001g0022 a0001c0003t0001g0041 a0001c0003t0001g0043 others(20): Show a0001c0003t0001g0022 a0001c0003t0001g0041 a0001c0003t0001g0043 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0167 a0001c0003t0002g0006 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0010g0042 a0001c0003t0018g0067 a0001c0003t0021g0068 a0001c0003t0023g0069 a0001c0006t0002g0007 a0001c0026t0001g0126 a0001c0027t0001g0127 a0001c0029t0001g0139	38	356	0.1067	-92	c.103 others(108): Show c.1034+28_1034+119delGGAACAGTGGTAAGAAAAGGTATGGGGGC TCGTCCCAGGTCAGGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCGT CCCAGGTCGGGGA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76392841	AGGCAGGT others(85): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0192 a0001c0002t0129g0192	1	346	0.0029	-92	c.181 others(113): Show c.1811-12630_1811-12539delCTCCCCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCTTCCC CCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392910	AGGCAGGT others(85): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	346	0.0029	-92	c.181 others(113): Show c.1811-12699_1811-12608delCTCCCCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCCTCCC CCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393098	AGGTGGTC others(85): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0196 a0002c0003t0196	a0002c0003t0196g0011 a0002c0003t0196g0011	1	346	0.0029	-92	c.181 others(113): Show c.1811-12887_1811-12796delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCC TCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393283	AGGCAGGT others(85): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18954.hp2 HG03491.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0081 a0001c0001t0010g0313 a0001c0001t0004g0081 a0001c0001t0010g0313	2	346	0.0058	-92	c.181 others(113): Show c.1811-13072_1811-12981delCTCCCCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCCTCCCCCCACCTGACCACCTGCCTTCCC CCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393493	GAGGGCAG others(85): Show GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	346	0.0029	-92	c.181 others(113): Show c.1811-13282_1811-13191delGCCCCCACCTGACCACCTGCCTTC CCCCCACCTGACCACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCCCC CACCTGACCACCTGCCCT	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393564	AGGCAGGT others(85): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0048 a0003c0007t0048	a0003c0007t0048g0335 a0003c0007t0048g0336 a0003c0007t0048g0335 a0003c0007t0048g0336	2	346	0.0058	-92	c.181 others(113): Show c.1811-13353_1811-13262delCTGCCCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCCTCCCCCCACCTGACCACCCGCCCTGCC CCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393568	AGGTGGTC others(85): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0054 a0001c0026t0054	a0001c0026t0054g0037 a0001c0026t0054g0037	1	346	0.0029	-92	c.181 others(113): Show c.1811-13357_1811-13266delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCCCCACCTGACCACCTGCCCTCCCCCCACCTGACCACCCGCCC TGCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394126	GGTCAGGT others(85): Show GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02698.hp1 HG03490.hp2 others(2): Show HG00673.hp1 HG02698.hp1 HG03490.hp2 NA18953.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0038 a0001c0001t0095 others(2): Show a0001c0001t0007 a0001c0001t0038 a0001c0001t0095 a0001c0001t0155 a0001c0004t0049	a0001c0001t0007g0250 a0001c0001t0038g0240 a0001c0001t0095g0232 others(2): Show a0001c0001t0007g0250 a0001c0001t0038g0240 a0001c0001t0095g0232 a0001c0001t0155g0342 a0001c0004t0049g0215	5	346	0.0145	-92	c.181 others(113): Show c.1811-13915_1811-13824delTACCTGCCCTCCCCCCACCTGACC ACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCT GCCCTCCCCCCACCTGAC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394500	GGGTGGTC others(85): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19065.hp2 NA18962.hp2 NA19065.hp2	a0001 a0012 a0001 a0012	a0001c0027 a0012c0034 a0001c0027 a0012c0034	a0001c0027t0123 a0012c0034t0019 a0001c0027t0123 a0012c0034t0019	a0001c0027t0123g0153 a0012c0034t0019g0280 a0001c0027t0123g0153 a0012c0034t0019g0280	2	346	0.0058	-92	c.181 others(113): Show c.1811-14289_1811-14198delTGCCTTCCCCCCACCTGACCACCC GCCCTGCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCC TCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394546	AGGTGGTC others(85): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG01070.hp2 HG01884.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0007 a0002c0003 a0003c0007	a0002c0003t0075 a0003c0007t0048 a0002c0003t0075 a0003c0007t0048	a0002c0003t0075g0217 a0003c0007t0048g0335 a0002c0003t0075g0217 a0003c0007t0048g0335	2	346	0.0058	-92	c.181 others(113): Show c.1811-14335_1811-14244delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCCGCCC TGCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394569	GGGTGGTC others(85): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0020 a0020	a0020c0056 a0020c0056	a0020c0056t0130 a0020c0056t0130	a0020c0056t0130g0068 a0020c0056t0130g0068	1	346	0.0029	-92	c.181 others(113): Show c.1811-14358_1811-14267delTGCCTTCCCCCCACCTGACCACCC GCCCTGCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394657	AGGCAGGT others(85): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	346	0.0029	-92	c.181 others(113): Show c.1811-14446_1811-14355delCTCCCCCCACCTGACCACCCGCCC TGCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCTTCCC CCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394701	GAAGGCAG others(85): Show GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG06807.hp1 HG04115.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0055 a0001c0005 a0002c0055	a0001c0005t0024 a0002c0055t0065 a0001c0005t0024 a0002c0055t0065	a0001c0005t0024g0076 a0002c0055t0065g0158 a0001c0005t0024g0076 a0002c0055t0065g0158	2	346	0.0058	-92	c.181 others(113): Show c.1811-14490_1811-14399delGCCCCCACCTGACCACCTGCCTTC CCCCCACCTGACCACCTGCCCTCCCCCCACCTGACCACCCGCCCTGCCCC CACCTGACCACCTGCCTT	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF778_chr16_89212703_89242141	89233029	ACTGCGTA others(85): Show ACTGCGTATGCAACTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCACTG CGTATGCAACTCAGCTCGCACTGCGTATGCAAGTCAGCTCGCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0041 a0002c0003t0024 a0002c0003t0041	a0002c0003t0024g0052 a0002c0003t0024g0078 a0002c0003t0041g0206 others(1): Show a0002c0003t0024g0052 a0002c0003t0024g0078 a0002c0003t0041g0206 a0002c0003t0041g0207	5	434	0.0115	-92	c.45 others(103): Show c.4549_*4640delGTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCT CTGCGTATGCAACTCAGCTCGCACTGCGTATGCAACTCAGCTCGCACTGC GTATGCAA	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	7/7	4549	INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF778_chr16_89212703_89242141	89233291	GCAACTCA others(85): Show GCAACTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCTCTGCGTATGCAA CTCAGCTCGCACTGCGTATGCAACTCGCACTGCGTATGCAACT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(28): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00741.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02155.hp2 HG02273.hp1 HG02683.hp1 HG02698.hp2 HG02976.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp2 NA18942.hp2 NA19067.hp1 NA19077.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0019c0034	a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 others(13): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052 a0001c0001t0072 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0002t0011 a0001c0002t0045 a0001c0002t0070 a0002c0003t0049 a0002c0003t0084 a0019c0034t0008	a0001c0001t0008g0005 a0001c0001t0008g0055 a0001c0001t0008g0056 others(24): Show a0001c0001t0008g0005 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0112 a0001c0001t0008g0224 a0001c0001t0011g0115 a0001c0001t0011g0217 a0001c0001t0021g0093 a0001c0001t0021g0094 a0001c0001t0021g0116 a0001c0001t0043g0005 a0001c0001t0043g0055 a0001c0001t0044g0005 a0001c0001t0052g0162 a0001c0001t0072g0002 a0001c0001t0147g0005 a0001c0001t0148g0005 a0001c0001t0149g0005 a0001c0002t0011g0022 a0001c0002t0011g0123 a0001c0002t0011g0126 a0001c0002t0011g0131 a0001c0002t0045g0044 a0001c0002t0070g0013 a0002c0003t0049g0179 a0002c0003t0084g0006 a0019c0034t0008g0005	31	434	0.0714	-92	c.47 others(103): Show c.4736_*4827delAGCTCGCTCTGCGTATGCAACTCAGCTCGCTCTG CGTATGCAACTCAGCTCGCACTGCGTATGCAACTCGCACTGCGTATGCAA CTCAACTC	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	7/7	4736	INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF778_chr16_89212703_89242141	89233314	GCAACTCA others(85): Show GCAACTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCACTGCGTATGCAA CTCGCACTGCGTATGCAACTCAACTCGCACTGCGTATGCAACT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG03225.hp2 NA18971.hp1 others(1): Show HG02148.hp1 HG03225.hp2 NA18971.hp1 NA19002.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0014 a0001c0001 a0002c0003 a0009c0014	a0001c0001t0058 a0001c0001t0117 a0002c0003t0112 others(1): Show a0001c0001t0058 a0001c0001t0117 a0002c0003t0112 a0009c0014t0046	a0001c0001t0058g0164 a0001c0001t0117g0086 a0002c0003t0112g0051 others(1): Show a0001c0001t0058g0164 a0001c0001t0117g0086 a0002c0003t0112g0051 a0009c0014t0046g0046	4	434	0.0092	-92	c.47 others(103): Show c.4759_*4850delAGCTCGCTCTGCGTATGCAACTCAGCTCGCACTG CGTATGCAACTCGCACTGCGTATGCAACTCAACTCGCACTGCGTATGCAA CTCAACTC	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	7/7	4759	INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF787_chr19_56082366_56126295	56100938	TGTCTGTC others(85): Show TGTCTGTCACTGTCACATAGGAGGGACGCACGTAGGCGGGACTCCACACG CCATGGCCAGGCCAACCCCCGCCACTCCACCCCCACCTACGAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02622.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02622.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0002 a0002c0009t0001 a0002c0009t0002	a0002c0009t0001g0010 a0002c0009t0001g0301 a0002c0009t0002g0106 a0002c0009t0001g0010 a0002c0009t0001g0301 a0002c0009t0002g0106	4	410	0.0098	-92	c.79+ others(107): Show c.79+2109_79+2200delTTCGTAGGTGGGGGTGGAGTGGCGGGGGTT GGCCTGGCCATGGCGTGTGGAGTCCCGCCTACGTGCGTCCCTCCTATGTG ACAGTGACAGAC	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	2/2			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52919090	CTCCCTCT others(85): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCGCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02723.hp1 others(2): Show HG02258.hp2 HG02572.hp2 HG02723.hp1 HG02922.hp2 HG03453.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0007 a0004c0011 a0002c0003 a0003c0007 a0004c0011	a0002c0003t0011 a0002c0003t0015 a0003c0007t0022 others(1): Show a0002c0003t0011 a0002c0003t0015 a0003c0007t0022 a0004c0011t0015	a0002c0003t0011g0236 a0002c0003t0015g0058 a0003c0007t0022g0137 others(2): Show a0002c0003t0011g0236 a0002c0003t0015g0058 a0003c0007t0022g0137 a0003c0007t0022g0169 a0004c0011t0015g0138	5	426	0.0117	-92	c.-17 others(109): Show c.-177-245_-177-154delAGGGAGAGCGAGAGGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGA	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ABCC4_chr13_95014835_95306451	95196646	AAGGAAGG others(84): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01255.hp1 others(6): Show HG00280.hp1 HG01074.hp1 HG01255.hp1 HG01952.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG03831.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0014 a0006c0027 a0001c0001 a0001c0014 a0006c0027	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0014t0007 a0006c0027t0002	a0001c0001t0001g0126 a0001c0001t0001g0169 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0126 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0008g0246 a0001c0001t0020g0168 a0001c0014t0007g0170 a0006c0027t0002g0194	9	248	0.0363	-91	c.116 others(110): Show c.1162-1800_1162-1710delCCCTTCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196650	AAGGAAGG others(84): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03710.hp2 HG01069.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0247 a0001c0001t0008g0248	2	248	0.0081	-91	c.116 others(110): Show c.1162-1804_1162-1714delCCCTCCCTTCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABR_chr17_998519_1184981	1131803	CCTTTGCA others(84): Show CCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCCTTT GCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	337	0.0030	-91	c.62- others(106): Show c.62-6527_62-6437delAGGGGGGAGCTGTGCGCGTGGCAGGCACTG CATTTGGTGTGCAAAGGGGGGGAGCTGTGCGCGTGGCAGGCACTGCATTT GGTGTGCAAAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACSF3_chr16_89088852_89161233	89160374	CCCCCGCT others(84): Show CCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCCTCACCCGAAGACCCCC CGCTTCCTCACCCAAAGACCCCCCGCTTCCTTGCCCCGAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA19084.hp1 NA18969.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0201 a0002c0002t0004g0228 a0002c0002t0004g0201 a0002c0002t0004g0228	2	368	0.0054	-91	c.61 others(102): Show c.6168_*6258delCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCCT CACCCGAAGACCCCCCGCTTCCTCACCCAAAGACCCCCCGCTTCCTTGCC CCGAAGA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4142		chr16	TogoVar
ACTN2_chr1_236681499_236769631	236755631	AATATACT others(84): Show AATATACTGCAGAGTGCCCACTGCCACCGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG02129.hp1 others(5): Show HG02015.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 NA18979.hp2 NA19010.hp1 NA19072.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0019 a0002c0005 a0002c0008 a0002c0019	a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 a0002c0005t0004 a0002c0008t0004 a0002c0019t0004	a0002c0005t0004g0008 a0002c0005t0004g0256 a0002c0005t0004g0257 others(5): Show a0002c0005t0004g0008 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0306 a0002c0008t0004g0027 a0002c0008t0004g0296 a0002c0019t0004g0002	8	344	0.0233	-91	c.215 others(108): Show c.2154+437_2154+527delTACTGCAGAGTGCCCACTGCCACCGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAG AACCCTGGTTATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179277861	CCCCCTGA others(84): Show CCCCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCCCC CCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0031 a0031	a0031c0082 a0031c0082	a0031c0082t0002 a0031c0082t0002	a0031c0082t0002g0197 a0031c0082t0002g0197	1	276	0.0036	-91	c.535 others(108): Show c.535-4888_535-4798delTCAGCCGTTGGTCTCGGGGGGGGTCAGC CTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGCAGGGGGGTCAGCCT TTGGTCTCAGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar

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Search Results (Total: 10000 hits)