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
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(501): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATA TTTTATATTATATATATTATATATAATATATATATTTTATATTATATATA TTATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	141	0.0071	508	c.697 others(527): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATAT TTTATATTATATATATTATATATAATATATATATTTTATATTATATATAT TATATATAATATATATATTTTATATTATATATATTATATATAATATATAT TTTATATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(501): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	308	0.0033	508	c.127 others(527): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(501): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCC CCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	252	0.0040	508	c.10- others(525): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCT CCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCT CCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(501): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	252	0.0040	508	c.10- others(525): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCT CCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(501): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAAGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGG GGAGGCGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0248 a0005c0018t0001g0248	1	282	0.0036	508	c.623 others(525): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAA GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(501): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGG GGAGGCGGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0235 a0001c0004t0001g0235	1	282	0.0036	508	c.623 others(525): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(501): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGG GGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0262 a0002c0009t0002g0262	1	282	0.0036	508	c.623 others(525): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(501): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGG GGAGGCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp2 others(15): Show HG00099.hp2 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01943.hp1 HG01993.hp2 HG02083.hp2 HG02135.hp2 HG02683.hp2 NA18612.hp2 NA19063.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0011 a0013	a0001c0002 a0001c0006 a0001c0042 others(8): Show a0001c0002 a0001c0006 a0001c0042 a0002c0001 a0002c0009 a0003c0010 a0007c0049 a0007c0050 a0009c0020 a0011c0055 a0013c0022	a0001c0002t0002 a0001c0006t0002 a0001c0042t0001 others(9): Show a0001c0002t0002 a0001c0006t0002 a0001c0042t0001 a0002c0001t0002 a0002c0001t0003 a0002c0009t0002 a0003c0010t0002 a0007c0049t0002 a0007c0050t0010 a0009c0020t0001 a0011c0055t0018 a0013c0022t0001	a0001c0002t0002g0240 a0001c0002t0002g0257 a0001c0006t0002g0145 others(15): Show a0001c0002t0002g0240 a0001c0002t0002g0257 a0001c0006t0002g0145 a0001c0042t0001g0243 a0002c0001t0002g0260 a0002c0001t0003g0041 a0002c0001t0003g0140 a0002c0001t0003g0215 a0002c0001t0003g0216 a0002c0001t0003g0234 a0002c0009t0002g0249 a0003c0010t0002g0203 a0007c0049t0002g0231 a0007c0050t0010g0220 a0009c0020t0001g0211 a0009c0020t0001g0238 a0011c0055t0018g0271 a0013c0022t0001g0237	18	282	0.0638	508	c.623 others(525): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAM3_chr11_134064072_134157001	134137670	T T	TAAGTCGT others(501): Show TAAGTCGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGA GCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATG TTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCG TGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCA GTGGTGGTGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTA TGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGT GCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGG TGGTGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGAAATGTTTATGGC CAGTAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCGTGGTGCTC ATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGC GTCTCGTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp1 others(2): Show HG02055.hp1 HG02145.hp2 HG02572.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 others(2): Show a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0014g0264	5	390	0.0128	508	c.77- others(523): Show c.77-2173_77-2172insCTCATACTGAGAGAAATGTTTATGGCCAGT AGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATAC TGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCT CGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTC CCTTAGAGCCAGTGGTGGTGTCTCGTCGAAGTCGTGGTGCTCATACTGAG AGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTC AAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTT AGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGAA ATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAG TCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAG CCAGTGGTGGCGTCTCGTCAAAGTCGTG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KANK1_chr9_499695_751103	514139	C C	CCTTCCTC others(501): Show CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTCTCTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCTCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0002 a0006c0031t0002	a0006c0031t0002g0004 a0006c0031t0002g0004	1	254	0.0039	508	c.-84 others(525): Show c.-84+9387_-84+9388insTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCTCTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF3A_chr5_132687631_132742546	132718933	T T	TCACAGTT others(501): Show TCACAGTTAATGTTCAAACCTCCCATTGTCTCCATAATAAGGTCTGAACA TTGCAAGTGATTGATGTTTGAAGTCGTTAATAGAATGACCCTCTGATATT CCCGCCCCCACTTCTGTACTTTCTAATATACTTATTGAAGAAACTAGGTA ATTTGTCCAGAGTTTCCCGTGGTCTAGATATTGTGAGTGGCAATTTTTTG CAGCCATTTAACATGTTCATCTGTCTCCCGGATTTCTTGTCGATGGGTGA TTGTATCCAGAGGTTTGATTCACTTGTTTTGAGAGAACAATTTCATAGGT GATGTTAAGGACTACCCTGTTTTTCTCAATTTTATTTTCAAAATTCTTAC CCTATGAAGGGGTGCTGATAAATGCTACCCCTTTTATTTTCAAAGATTTT CCCCCCAGATTCATGGCTTTAACATCCTGTGCCTCAAAAATTCTGTGCTT CAAATTTGTTAATTGGTGGTGGTTTTTTTTTTTTTTGAGACGGAGTCTTG CTGTGTCGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	346	0.0029	508	c.616 others(525): Show c.616+1675_616+1676insGCGACACAGCAAGACTCCGTCTCAAAAA AAAAAAAAACCACCACCAATTAACAAATTTGAAGCACAGAATTTTTGAGG CACAGGATGTTAAAGCCATGAATCTGGGGGGAAAATCTTTGAAAATAAAA GGGGTAGCATTTATCAGCACCCCTTCATAGGGTAAGAATTTTGAAAATAA AATTGAGAAAAACAGGGTAGTCCTTAACATCACCTATGAAATTGTTCTCT CAAAACAAGTGAATCAAACCTCTGGATACAATCACCCATCGACAAGAAAT CCGGGAGACAGATGAACATGTTAAATGGCTGCAAAAAATTGCCACTCACA ATATCTAGACCACGGGAAACTCTGGACAAATTACCTAGTTTCTTCAATAA GTATATTAGAAAGTACAGAAGTGGGGGCGGGAATATCAGAGGGTCATTCT ATTAACGACTTCAAACATCAATCACTTGCAATGTTCAGACCTTATTATGG AGACAATGGGAGGTTTGAACATTAACTGTG	KIF3A	ENSG00000131437.16	transcript	ENST00000403231.6	protein_coding	5/18			chr5	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(501): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0000 a0000	a0000c0094 a0000c0094	a0000c0094t0001 a0000c0094t0001	a0000c0094t0001g0098 a0000c0094t0001g0098	1	186	0.0054	508	c.956 others(525): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTCATCA CCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCA CCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATCA TCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAGCCAG others(501): Show AAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT GAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCAG TGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATT ACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCATC AAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCGC CTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTCC AGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0107 a0007c0017t0001g0107	1	212	0.0047	508	c.363 others(525): Show c.3638-630_3638-629insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(501): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATGTACCTCCACACCCACACTCACACCCACCCGCGCTTA CACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTCCACA CCCACACTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18950.hp2 NA19079.hp2 NA18947.hp1 NA18950.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264	3	290	0.0103	508	c.129 others(527): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATGTACCTCCACACCCACACTCAC ACCCACCCGCGCTTACACCCACCCTTACATCTACCTCCACACCCACAATT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364375	A A	ACGCTTAC others(501): Show ACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTACAT CTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0214 a0001c0002t0019g0214	1	290	0.0035	508	c.129 others(527): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(501): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATACA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TACATATATGCACACATATATATGTACATACATATATGCACACATATATA TGTACATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	116	0.0086	508	c.62+ others(527): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(501): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTATATATTATATAATTATAATATAATATATAATATAATTATATTATAT ATAATTATATTAAACATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATCTATAATTATATTATATAT TATATAATCTATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACTTATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAACTATATTCTATATAG AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0030 a0010c0013t0001g0030	1	288	0.0035	508	c.-32 others(519): Show c.-3200_-3199insAATTATATTCTATATAGAATATAGTTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(501): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTATATATTATATAATTATAATATAATATATAATATAATTATATTATAT ATAATTATATTAAACATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATCTATAATTATATTATATAT TATATAATCTATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACTTATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAG AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	508	c.-32 others(519): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(501): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTATATATTATATAATTATAATATAATATATAATATAATTATATTATAT ATAATTATATTAAACATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATCTATAATTATATTATATAT TATATAATCTATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACTTATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAT AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	508	c.-32 others(519): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(501): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTATATATTATATAATTATAATATAATATATAATATAATTATATTATAT ATAATTATATTAAACATATTATATAATCTATAATTATATTATATATTATA TAATCTATAATTATATTATATATTATATAATCTATAATTATATTATATAT TATATAATCTATAATTATATTATATATTATATAATCTATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACTTATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAT AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	508	c.-32 others(519): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061816	T T	TATTCTAT others(501): Show TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATAATATATAATTATATTAAA CATATTATATAATATATAATTATATTATATATTATATAATCTATAATTAT ATATATATTATATAATCTATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATATATTATATACATTT AATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGT ATTATAATATATAATATATTATATATAATTATATTATAACTTATTATATA TAATTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTA TAATATATAATTATATTCTATATATAATTATATATAATATAATTATATTC TATATATAATATAATTATATATAATTATATTCTATATAGAATATAATTAT ATATAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	508	c.-32 others(519): Show c.-3212_-3211insTAATTATATATAATTATATTCTATATAGAATATA ATTATATATAATTATATTATATATAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATAAGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATATAATATATAATATAAT TATATATTATATAATATATAATATAATTATATATTATATAATATATAATA TAATTATAGATTATATAATATATATATAATTATAGATTATATAATATATA ATATAATTATATATTATATAATATGTTTAATATAATTATATATTATAATT ATATTATATATTATATTATAATTATATAATATATAATATAATTATATATT ATATAATTATATTCTATATAGAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3141		chr19	TogoVar
MLPH_chr2_237482251_237560322	237544564	G G	GACAGTGG others(501): Show GACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGAGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCAC GGTGGTGAGTGGAGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAGTGGGGCAGGGACAGTGGTGAGTGGGGGGACAGTGCAA GTGGGGACAGGGTGTGACGTGCGGGAGACAGTGGGCCAAGTGGGCACGGG TGGTGACGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACA GTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	508	c.153 others(527): Show c.1539+1905_1539+1906insACAGTGGTGAGTGGGGACAGTGGTGA GTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAG TGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGTGAGTG GGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGCAGGGACAG TGGTGAGTGGGGGGACAGTGCAAGTGGGGACAGGGTGTGACGTGCGGGAG ACAGTGGGCCAAGTGGGCACGGGTGGTGACGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(501): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAA AATGGATTAAAAGTTATAAATATATATAAATATATATTTAGCTATATTTA TATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAA GGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAACATATAACTAC TGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAT TATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATAT ATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATA TAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTT GGTTATATG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	312	0.0032	508	c.293 others(527): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTTATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAA AATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATA TAACGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATA TATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATA TATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATATATATTTAG GTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATATAAATATATA AATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGT ATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(501): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	364	0.0028	508	c.394 others(523): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUC4_chr3_195741771_195816929	195771082	C C	CGGGTTGG others(501): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGCCGGGTTGGGTATTCCTGGT CAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTT GGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGT CTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGG TATTCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGC GGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTC CTGGTCAGTCTCGCGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCG GGTTGGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGG TCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGT TGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGTATTCCTGGTCAGT CTCGTGGTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0010 a0017c0018t0010	a0017c0018t0010g0003 a0017c0018t0010g0003	1	249	0.0040	508	c.132 others(527): Show c.13242+569_13242+570insAACCACGAGACTGACCAGGAATACCC AACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTG ACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACC CGGCCACGAGACTGACCAGGAATACCCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCGCGAGACTGACCAGGAATACCCCAACCCGGC CGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAA TACCCCAACCCGGCCGCGAGACTGACCAGAATACCCCAACCCGGCCGCGA GACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCAACC CGGCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(501): Show TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TAATTATATATATTTATATATAAGTATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATA TATATTTATATATAAGTGTATATATATAAATATATATATTTATATAGAAG TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0115 a0005c0005t0002g0115	1	326	0.0031	508	c.358 others(525): Show c.358+3412_358+3413insTATATAAGTATATATATATATTTATATA TAAGTATATATAATTATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATA TATAAATATATATATTTATATATAAGTGTATATATATAAATATATATATT TATATAGAAGTATATATAAATATATATATTTATATATAAGTATATATAAA TATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(501): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATACGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	326	0.0031	508	c.358 others(525): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATACGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAA TATAAGTATATATATAAATATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690733	T T	TATATATA others(501): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATA TATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	326	0.0031	508	c.358 others(525): Show c.358+3476_358+3477insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAA TATAAGTATATATATAAATATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(501): Show TTATATATAAATATATAATATATATTATATATAAATATATAATATATATA ATATATATTATATATAAATATATAATATATATTATATATTATATATATTA TAATATATATAATATATAATATATATTATATATAAATATATATAATATAT AATATATATTATATATAAATATATATAATATATAATATATATTATATATA AATATATATAATATATAATATATATTATATATAAATATATATAATATATA ATATATATTATATATAAATATATATAATATATAATATATATTATATATAA ATATATATATAATATATATTATATATTATATATAATATATAATATATATT ATATTATATATTATATAATATGTAAATATATATTATATATATTATATAAT ATATAATATATTATATATATTATATAATATATTATATATAATATAATATA TTATATATTATATAATATATTATATATTATATAATATATTATATATAATA TATTATATA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0174 a0002c0003t0004g0174	1	348	0.0029	508	c.48+ others(523): Show c.48+1021_48+1022insATATATAAATATATAATATATATTATATAT AAATATATAATATATATAATATATATTATATATAAATATATAATATATAT TATATATTATATATATTATAATATATATAATATATAATATATATTATATA TAAATATATATAATATATAATATATATTATATATAAATATATATAATATA TAATATATATTATATATAAATATATATAATATATAATATATATTATATAT AAATATATATAATATATAATATATATTATATATAAATATATATAATATAT AATATATATTATATATAAATATATATATAATATATATTATATATTATATA TAATATATAATATATATTATATTATATATTATATAATATGTAAATATATA TTATATATATTATATAATATATAATATATTATATATATTATATAATATAT TATATATAATATAATATATTATATATTATATAATATATTATATATTATAT AATATATTATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0291 a0001c0001t0082g0291	1	386	0.0026	508	c.92 others(519): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCC TCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCT CCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCC TCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCT GTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	386	0.0026	508	c.92 others(519): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTC TCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCTCCCGCCCC CTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCT CCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCC TCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCT GTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	386	0.0026	508	c.92 others(519): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCTCACTCCCTTTCCCTC TCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCTTC TCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCC TCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCC TCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTC TCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCTCCCGCCCC CTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCT CCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCC TCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCT GTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(501): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	439	0.0046	508	c.-16 others(519): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(501): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGT ATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00423.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	439	0.0046	508	c.-16 others(519): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAGTA TATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(501): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTAATACATATATAACATATATGTATTACATATATGTAATAC ATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	508	c.70 others(519): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTAATACATATATAACATATATGTATT ACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PEBP1_chr12_118131124_118150584	118133183	T T	TATATTTT others(501): Show TATATTTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	426	0.0024	508	c.-30 others(519): Show c.-3027_-3026insATATTTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2940		chr12	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(501): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0258 a0001c0004t0003g0258	1	334	0.0030	508	c.28- others(523): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGG AGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO2_chr18_10665247_11154569	11014899	G G	GATGTCAC others(501): Show GATGTCACCCTGGGCGGGACAGCGATCCATGACCCCCTCATTCCTCAGTG TGGGGAAGATGTCACCCTGGGCAGGACAGCGATCCGGGGCCCCCCTCATT CCTCAGCGGGGAACATGTCACCCTGGGTGGGACAGCGATCCATGACCCCC TCATTCCTCAGTGTGGGGAAGATGTCACCCTGGGCGGGACAGCGATCCGG GGCCCCCCTCATTCCTCAGCGGGGAACATGTCACCCTGGGTGGGACAGCA ATCCAGGGCCCCCTCATTCCTCAGTGTGGGGAAGATGTCACCCTGGGCGG GACAGCGATCCATGACCCCCTCATTCCTCAGTGTGGGGAAGATGTCACCC TGGGCGGGACAGCGATCCGGGGCCCCCCTCATTCCTCAGCGGGGAACATG TCACCCTGGGTGGGACAGCGATCCATGACCCCCTCATTCCTCAGTGTGGG GAAGATGTCACCCTGGGCAGGACAGCGATCCGGGGCCCCCTCATTCCTCA GTGGGGAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02896.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0002 a0006 a0011 a0002 a0006 a0011	a0002c0001 a0002c0015 a0006c0004 others(1): Show a0002c0001 a0002c0015 a0006c0004 a0011c0060	a0002c0001t0001 a0002c0001t0002 a0002c0015t0002 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0015t0002 a0006c0004t0003 a0011c0060t0003	a0002c0001t0001g0087 a0002c0001t0002g0151 a0002c0015t0002g0107 others(2): Show a0002c0001t0001g0087 a0002c0001t0002g0151 a0002c0015t0002g0107 a0006c0004t0003g0149 a0011c0060t0003g0078	5	158	0.0317	508	c.161 others(527): Show c.161-35240_161-35239insGTTCCCCACTGAGGAATGAGGGGGCC CCGGATCGCTGTCCTGCCCAGGGTGACATCTTCCCCACACTGAGGAATGA GGGGGTCATGGATCGCTGTCCCACCCAGGGTGACATGTTCCCCGCTGAGG AATGAGGGGGGCCCCGGATCGCTGTCCCGCCCAGGGTGACATCTTCCCCA CACTGAGGAATGAGGGGGTCATGGATCGCTGTCCCGCCCAGGGTGACATC TTCCCCACACTGAGGAATGAGGGGGCCCTGGATTGCTGTCCCACCCAGGG TGACATGTTCCCCGCTGAGGAATGAGGGGGGCCCCGGATCGCTGTCCCGC CCAGGGTGACATCTTCCCCACACTGAGGAATGAGGGGGTCATGGATCGCT GTCCCACCCAGGGTGACATGTTCCCCGCTGAGGAATGAGGGGGGCCCCGG ATCGCTGTCCTGCCCAGGGTGACATCTTCCCCACACTGAGGAATGAGGGG GTCATGGATCGCTGTCCCGCCCAGGGTGACAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(501): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGG GTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0060 a0021c0026t0060	a0021c0026t0060g0169 a0021c0026t0060g0169	1	210	0.0048	508	c.45+ others(519): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(501): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGG GTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGATGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19043.hp2 HG02145.hp2 NA19043.hp2	a0008 a0008	a0008c0024 a0008c0025 a0008c0024 a0008c0025	a0008c0024t0021 a0008c0025t0069 a0008c0024t0021 a0008c0025t0069	a0008c0024t0021g0176 a0008c0025t0069g0174 a0008c0024t0021g0176 a0008c0025t0069g0174	2	210	0.0095	508	c.45+ others(519): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCGGGGGTAGGGATGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(501): Show GGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGA GTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0020 a0006c0073t0020	a0006c0073t0020g0193 a0006c0073t0020g0193	1	210	0.0048	508	c.45+ others(519): Show c.45+94_45+95insCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGGTAGGGGTGGGGTGGGGGCG CCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGT GGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGG GGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165745	T T	TGCTGTGA others(501): Show TGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGC GGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATG CTCTGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGT GACGGGGCGGGGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCT CACACTAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0045 a0008c0025t0045	a0008c0025t0045g0172 a0008c0025t0045g0172	1	210	0.0048	508	c.347 others(527): Show c.3476+2200_3476+2201insGTGACGGGGCGGAGCTCACACAGTAA TGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTGTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGC GGGGCTCACACTAATGCTGTGACGGGGCGGGGCTCACACAGTAATGCTGT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACACTAACGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLG_chr15_89311320_89339824	89325239	T T	TGAGAGAG others(501): Show TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	398	0.0025	508	c.194 others(525): Show c.1949+210_1949+211insTCTCACTCTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCTCTCACTCAC TCACTCACTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTC ACTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTC ACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCTC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTC ACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCACTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2106545	C C	CGTGTGTC others(501): Show CGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAG GACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAG TGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCAGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCA GGTGACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCGGTGGGCGAG GACCTCCAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	286	0.0035	508	c.335 others(527): Show c.335-28717_335-28716insGTGTGTCACCAGGCCAGGTAACTCTC AGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGG TAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACGTGTGTCACC AGGCCAGGTGACTCTTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGG TGACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCAC CAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACG TGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA CCTCCACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCTGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTC AGCAAGCCCCTCCGGTGGGCGAGGACCTCCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PXDN_chr2_1626887_1749515	1711457	T T	TCTCCACC others(501): Show TCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACT CTCCACCAGCACCCGCTCCACCAGCACCCGCTCCACCAGCACCCACTCTC CACCAGCACCCACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACCA GCACCCACTCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAG CACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCAT CCACTCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCACCCA CTCTCCACTAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCGC TCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCATCCACTCC ACCAGCACCCACTCTCCACCAGCATCCACTCTCCACCAGCACCCACTCCA CCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCAC CAGCACCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0151 a0001c0004t0004g0151	1	322	0.0031	508	c.201 others(527): Show c.201-18324_201-18323insCGGGTGCTGGTGGAGCGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTG GAGAGTGGATGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGATGCTGGTGG AGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAGA GTGGGTGCTGGTGGAGTGGGTGCTAGTGGAGAGTGGGTGCTGGTGGAGAG TGGGTGCTTGTGGAGCGGGTGCTGGTAGAGTGGATGCTGGTGGAGCGGGT GCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAGCGGGTGCT GGTGGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTG GTAGAGTGGATGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTG GAGCGGGTGCTGGTGGAGCGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAG CGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(501): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAAAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGATGCACAGAGAGAGG GAGGGATGC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	322	0.0031	508	c.200 others(527): Show c.200+23992_200+23993insGCATCCCTCCCTCTCTCTGTGCATCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCC CTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTTTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCC CTCCCTCTCTCTCTGCATCCCTCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(501): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGATGCACAGAGAGAGG GAGGGATGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02074.hp1 others(10): Show HG00544.hp2 HG00609.hp1 HG02074.hp1 HG02523.hp1 HG03491.hp1 NA18967.hp1 NA18970.hp1 NA18985.hp2 NA18997.hp2 NA19062.hp2 NA19084.hp2 NA19085.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0008t0002 a0001c0015t0003 a0004c0017t0001	a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0126 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0214 a0001c0001t0002g0065 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0005g0300 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0008t0002g0297 a0001c0015t0003g0116 a0004c0017t0001g0128	13	322	0.0404	508	c.200 others(527): Show c.200+23992_200+23993insGCATCCCTCCCTCTCTCTGTGCATCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCC CTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCC CTCCCTCTCTCTCTGCATCCCTCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(501): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCTTCCCT CCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTC CCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCTCTCCTTCCTTCCC CTCCCCTCCCCTTCCCTCCCTTTCCTCCCTCCCTTCCCCTCCCCTCCCCT TCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTC CTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTC CGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTC CCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCC CCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCCTCCCCTCCTTTCCCTCCCCTCCCCTCCCCT CCCTTCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0195 a0002c0008t0005g0195	1	218	0.0046	508	c.80+ others(525): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCT CCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCC CTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCTCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTC CCCTCCCCTTTTCTCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCC CCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCC CCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTC CCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCC TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCTTTCCCT CCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAPGEF1_chr9_131571775_131745076	131586841	A A	AACACACA others(501): Show AACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACA CACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACA CACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTG CAGAGCGAGACTCCGTCTCACACACACACACACCTGCAGAGTGAGACTCC GTCTCAAACACACACACACACACACACACACCCCTGCAGAGCGAGACTCC GTCTCAAACACACACACACACACACACACCTGCAGAGCGAGACTCCGTCT CACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACA CACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACC TGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACACCTGCA GAGCGAGACTCCGTCTCAAACACACACACACACACCTGCAGAGCGAGACT CCGTCAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0066 a0001c0005t0032g0066	1	368	0.0027	508	c.323 others(525): Show c.3233+894_3233+895insGTTTGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGT GTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTTTGA GACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTGTGTGTGTTTGA GACGGAGTCTCGCTCTGCAGGTGTGTGTGTGAGACGGAGTCTCGCTCTGC AGGTGTGTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGG GTGTGTGTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCACTCTGCAGGT GTGTGTGTGTGTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGT TTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTTTGAGACG GAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTGTGTGTTTGAGACGGA GTCTCGCTCTGCAGGTGTGTGTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(501): Show CTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCT CCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCT CCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCC CTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCC TCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTC ACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTC ATCCTCCCTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCC TCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTC TCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CTCTCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG03516.hp2 HG02809.hp2 HG03486.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0046 a0002c0002t0004g0210 a0002c0002t0004g0239 a0002c0002t0003g0046 a0002c0002t0004g0210 a0002c0002t0004g0239	3	262	0.0115	508	c.249 others(527): Show c.2495+1371_2495+1372insAGGAGAGAGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAG ATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAGGGTAAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGT GAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAG GGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGAGG GAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGG AGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGA AGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar

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Search Results (Total: 10000 hits)