JoGo: Joint Open Genome and Omics Platform

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
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(446): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	170	0.0059	-453	c.354 others(17): Show c.3540+459_3540+911del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	2262930	ATAACCTG others(446): Show ATAACCTGTGATATATATATATATATCACAGGTAATAAACATCTAGGTCT TCATTGGAGGAAACAAAATAGCATAAAGTGAACATATAAAATATTTTTCC CAAAAGGCAGGGCAAAAAACACAAACAAAATTTCCAGATATAAAACACAT TGAAACTAATAACTTTAAAAAGAGAACTATCATTGCCCTTGGAGAAGGTA GTCATATTTAATTCTTCCCTGAATGACAACATGCAACTTCCTTTTTTGAT GAATTAATTGATTAGGATTCCCATAAACAGTCTTCTTTCAGCATTTGTGA AAATCGTGCATTTATAATCACTTTGAAAATGGAAGAGAAGGGGAACCCTA CTGGCAGAGAGCGAGGAGGGCCAATCACCTCCCAGCTCCAGGGTTAACGA CGCCCTCTGCTTACATCCCAGAAACAAGGGGTGCTGCACATATGCAAAAC CCGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	104	0.0096	-453	c.-42 others(21): Show c.-421+21021_-421+21473del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NMNAT2_chr1_183243237_183423380	183339525	ACTGGGTT others(446): Show ACTGGGTTCAAATCCCAGAGCTGAAGGTCCTTGGACAAGAGATTTACCTT GTCTGAGCTCCAGTGTCCTCGTTTAAAGTTGGCATAAAGGGTTATTGTGA CAAAGATGATCACAAGGGTCAATATTAATTGAACACTTACAATGTGCTAG GCACTGTTCTCAGCATTGACGTGGCTTATCTCATTTAGTTGTTACACAAT GCATTTTTGATAACTGCCCTGCCACCCAGGGAGGTACCATCTGTACTCCA AAATGAAGCTCCTTTTGAGAGAGCCTTTTTATCTCTGCCTTCTGAGTGGC CCAATGAGAGGTCCTGAAGGAGCTATGTCTGCCTCAGGTGGGTGTTGGAA GCATTCATGAATGCCTGGAACCACAGGCATGTACTGAGCAGCCAGGCCAT TGCTATCACTAACAATCAAGATCCTGAAAACAAGAACACATAAAAGGGGA ATGT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18956.hp1 NA18983.hp1 others(3): Show NA18950.hp1 NA18956.hp1 NA18983.hp1 NA19000.hp1 NA19012.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 others(3): Show a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0183 a0001c0001t0014g0023	6	258	0.0233	-453	c.86- others(17): Show c.86-46185_86-45733del	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
PCGF3_chr4_700832_775089	746070	GGGGTCGC others(446): Show GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCC	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0301 a0002c0002t0007g0301	1	366	0.0027	-453	c.462 others(17): Show c.462+1386_462+1838del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLXNB2_chr22_50269979_50312646	50285240	ACCGGCCG others(446): Show ACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGG CACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTC CCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCAC CTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCTGAGCCT GCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGCCTGTCA CCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGC ACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCT CCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTG AGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTG TCAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0134 a0002c0014t0008g0135 a0002c0014t0008g0134 a0002c0014t0008g0135	2	302	0.0066	-453	c.208 others(17): Show c.2088+107_2088+559del	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
SNTG2_chr2_945849_1372613	1343274	CCCCTGTT others(446): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCAC TTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 NA18522.hp1 HG01891.hp2 HG03453.hp2 NA18522.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0005c0006 a0007c0016 a0001c0002 a0005c0006 a0007c0016	a0001c0002t0001 a0005c0006t0001 a0007c0016t0001 a0001c0002t0001 a0005c0006t0001 a0007c0016t0001	a0001c0002t0001g0041 a0005c0006t0001g0079 a0007c0016t0001g0005 a0001c0002t0001g0041 a0005c0006t0001g0079 a0007c0016t0001g0005	3	190	0.0158	-453	c.148 others(21): Show c.1489-24065_1489-23613del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343882	AGCAGCTT others(446): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGTG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	190	0.0053	-453	c.148 others(21): Show c.1489-23398_1489-22946del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344633	CCCCTGTT others(446): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0006 a0006c0010t0001g0006	1	190	0.0053	-453	c.148 others(21): Show c.1489-22706_1489-22254del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288885	TCCCGTGT others(445): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	295	0.0034	-452	c.42 others(11): Show c.4227_*4678del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3505		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	TCGGCATG others(445): Show TCGGCATGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGTGGGCAGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGCTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0063 a0063	a0063c0044 a0063c0044	a0063c0044t0006 a0063c0044t0006	a0063c0044t0006g0126 a0063c0044t0006g0126	1	338	0.0030	-452	c.300 others(17): Show c.300-9318_300-8867del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
ERC1_chr12_986223_1500931	1086419	GTTGTTGT others(445): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp1 HG01192.hp1 others(15): Show HG00544.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01981.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02735.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 NA18966.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 others(13): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0090 a0001c0001t0091 a0001c0001t0095 a0001c0001t0103 a0001c0001t0107 a0001c0001t0121 a0001c0001t0123 a0001c0001t0126 a0001c0003t0088 a0002c0002t0038 a0002c0002t0084	a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0013g0005 others(15): Show a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0013g0005 a0001c0001t0013g0015 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0095g0019 a0001c0001t0103g0132 a0001c0001t0107g0006 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0126g0030 a0001c0003t0088g0021 a0002c0002t0038g0082 a0002c0002t0084g0025	18	162	0.1111	-452	c.108 others(19): Show c.1086+2849_1086+3300del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089808	GTTGTTGT others(445): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01192.hp1 others(13): Show HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG02602.hp2 HG02735.hp2 HG03669.hp2 HG03927.hp1 NA18612.hp1 NA18966.hp1 NA19090.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(13): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0094 a0001c0001t0095 a0001c0001t0107 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0002c0002t0084	a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0010g0009 others(13): Show a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0010g0009 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0027g0119 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0107g0006 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0125g0033 a0001c0001t0126g0030 a0002c0002t0084g0025	16	162	0.0988	-452	c.108 others(19): Show c.1086+6238_1086+6689del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	696145	TCTCCTTC others(445): Show TCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCT CTCCTTCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCTCTCACCCTCCA CTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTTCAC TCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCCACT CCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCTT CTCCTTCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTC TCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCT CACCCTCTCTCCCTCTCCTTCCTCCCCATCAGCCTGTGCGCGCTCCTCAC ACCCTCCCTCTCCTTCCTCCCCATCAGCCTGTACTCGCTCCTCTTACCCT CCA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	378	0.0027	-452	c.170 others(17): Show c.170-3985_170-3534del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
MARVELD2_chr5_69410116_69449330	69428215	ATTTAGGC others(445): Show ATTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTTGGAA GCCAAGGTGGGTGGATCACCAGAGGTCAGGAGTTTGAGACCAGCCTGGGC AACATGGCAAAATCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTG TGGTGGCGCAAGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCGGGAGA ATGACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCTGAGATCCAGATTG TTACCACTGCACTCCAGCCTGGGCAATAGTGCGAGACTGTCTCAAAAATA AATAAATTAAGTAATTAAAATAAATTTAAAGCAGATGAAATGTCTACATG GAAATATTCTGATTTCTTCAGGCTCCCTTTCTATATTAAAAGGTAAGTCT TACAATTAGGGATGGGCAAGTAAGAAAAATGATTAGTTCTTCCTTAAAAA AAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(157): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(32): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0040 a0001c0006t0018 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0020 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0036 a0002c0002t0038 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0002t0050 a0003c0008t0005	a0001c0001t0002g0006 a0001c0001t0002g0293 a0001c0001t0002g0294 others(152): Show a0001c0001t0002g0006 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0005g0061 a0001c0001t0018g0292 a0001c0001t0018g0295 a0001c0001t0019g0006 a0001c0001t0024g0160 a0001c0001t0024g0161 a0001c0001t0040g0291 a0001c0006t0018g0006 a0002c0002t0003g0001 a0002c0002t0003g0003 a0002c0002t0003g0026 a0002c0002t0003g0038 a0002c0002t0003g0179 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0003g0204 a0002c0002t0003g0206 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0217 a0002c0002t0003g0220 a0002c0002t0003g0222 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0233 a0002c0002t0003g0236 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0269 a0002c0002t0004g0001 a0002c0002t0004g0003 a0002c0002t0004g0011 a0002c0002t0004g0026 a0002c0002t0004g0188 a0002c0002t0004g0191 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0004g0212 a0002c0002t0004g0218 a0002c0002t0004g0219 a0002c0002t0004g0224 a0002c0002t0004g0226 a0002c0002t0004g0228 a0002c0002t0004g0231 a0002c0002t0004g0235 a0002c0002t0004g0247 a0002c0002t0004g0268 a0002c0002t0005g0001 a0002c0002t0005g0003 a0002c0002t0005g0009 a0002c0002t0005g0027 a0002c0002t0005g0178 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0205 a0002c0002t0005g0216 a0002c0002t0005g0225 a0002c0002t0005g0238 a0002c0002t0005g0240 a0002c0002t0005g0241 a0002c0002t0005g0244 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0254 a0002c0002t0005g0258 a0002c0002t0005g0260 a0002c0002t0005g0264 a0002c0002t0005g0267 a0002c0002t0005g0270 a0002c0002t0005g0274 a0002c0002t0005g0277 a0002c0002t0007g0025 a0002c0002t0007g0027 a0002c0002t0007g0039 a0002c0002t0007g0162 a0002c0002t0007g0163 a0002c0002t0007g0165 a0002c0002t0007g0169 a0002c0002t0007g0170 a0002c0002t0007g0173 a0002c0002t0007g0174 a0002c0002t0008g0190 a0002c0002t0008g0198 a0002c0002t0008g0201 a0002c0002t0008g0227 a0002c0002t0008g0265 a0002c0002t0008g0276 a0002c0002t0009g0011 a0002c0002t0009g0196 a0002c0002t0009g0221 a0002c0002t0009g0273 a0002c0002t0011g0009 a0002c0002t0011g0010 a0002c0002t0011g0011 a0002c0002t0011g0175 a0002c0002t0011g0177 a0002c0002t0011g0180 a0002c0002t0013g0010 a0002c0002t0013g0164 a0002c0002t0013g0167 a0002c0002t0013g0168 a0002c0002t0013g0181 a0002c0002t0014g0245 a0002c0002t0014g0263 a0002c0002t0014g0266 a0002c0002t0014g0272 a0002c0002t0014g0275 a0002c0002t0015g0159 a0002c0002t0015g0237 a0002c0002t0016g0239 a0002c0002t0016g0262 a0002c0002t0017g0182 a0002c0002t0020g0001 a0002c0002t0020g0223 a0002c0002t0020g0234 a0002c0002t0022g0183 a0002c0002t0022g0189 a0002c0002t0023g0166 a0002c0002t0023g0172 a0002c0002t0026g0029 a0002c0002t0027g0278 a0002c0002t0028g0185 a0002c0002t0032g0029 a0002c0002t0033g0176 a0002c0002t0035g0009 a0002c0002t0036g0232 a0002c0002t0038g0271 a0002c0002t0044g0003 a0002c0002t0045g0171 a0002c0002t0047g0010 a0002c0002t0050g0184 a0003c0008t0005g0207	160	345	0.4638	-452	c.118 others(19): Show c.1182+3584_1183-3856del	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	287581	TCTCTCCA others(445): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACA GACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACC GACAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTCTC TCCACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTC TCTCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC TCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	133	0.0075	-452	c.352 others(17): Show c.352-6179_352-5728del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288885	TCCCGTGT others(445): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0125 a0004c0005t0010g0125	1	290	0.0035	-452	c.166 others(17): Show c.1662+857_1663-926del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1343543	GGCAGCTT others(445): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACA GCA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01517.hp1 others(6): Show HG00673.hp1 HG01175.hp1 HG01517.hp1 HG02738.hp1 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18984.hp1 NA19084.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0001 a0001c0002 a0003c0008 others(2): Show a0001c0001 a0001c0002 a0003c0008 a0006c0010 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0008t0001 a0006c0010t0001 a0009c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0124 a0001c0001t0003g0120 a0001c0002t0001g0028 a0001c0002t0001g0115 a0003c0008t0001g0190 a0006c0010t0001g0162 a0009c0013t0001g0164	9	190	0.0474	-452	c.148 others(21): Show c.1489-23737_1489-23286del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SWAP70_chr11_9659077_9757993	9705800	CTGGTGAT others(445): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGA TCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGT GATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTG GTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATAC TTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0259 a0001c0002t0002g0259	1	294	0.0034	-452	c.241 others(17): Show c.241-7602_241-7151del	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139997479	GACAATGC others(445): Show GACAATGCATTCCACACAGGGGAGACAATGCATTCTACACAGGGGAGACA ATGCATCCTACACAGAAGAGACAACGCATCCTACCCAGGGGAACAATGCA TCCTACCCAGGGGAGACAATGCATCCTACACAGGGAGACAATGCATCCCA CACAGGGGAAACAATGCATCCTACACAGGGAGACAGTGCATCCTACACAG GGGAGACAATGCATCCTACACAGGGAGACAATGCATCCCACACAGGGGAA ACAATGCATCCTACACAGGGAGACAGTGCATCCTACACAGGGGAGACAGT GCATCCTACACAGGGAGACAATGCATCCTACACAGGGAGACAATGCATCC CACACAGGGAGACAATGCATCCCACACAGGAGAGACAATGCATCCCACAC AGGGGAGACAATGCATCCCACACAGGGGAGACAATGCATCCCACACAGGG GAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	98	0.0102	-452	c.270 others(19): Show c.2700-9095_2700-8644del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	18/22			chr8	TogoVar
XPO5_chr6_43517334_43581038	43580586	GGGCTCCT others(445): Show GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGG AGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03579.hp2 HG06807.hp1 HG03209.hp2 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0056	3	246	0.0122	-452	c.-51 others(11): Show c.-5174_-4723del	XPO5	ENSG00000124571.18	transcript	ENST00000265351.12	protein_coding		4549		chr6	TogoVar
ZNF117_chr7_64966772_64996036	64967536	GGGACGGG others(445): Show GGGACGGGGCGCCTGGCCGGGCGGGGGGCTGACCCCCCTGCCTCCCTCCC GGACGGGGCGGCTGACCGGGCTGGGGGCTGACCTCCCCGCCTCCCTCCTG GATGGGGCGGCTGGCCGGGTGGGGGCTGACCCCCCCCCCACCTCCTTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGTCTGGCTGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGA GGGGCTCCTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCT CCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	444	0.0023	-452	c.10 others(13): Show c.10131_*10582del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		4235		chr7	TogoVar
ADARB2_chr10_1172313_1742525	1396982	CCTCTCCC others(444): Show CCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCC TCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCG CAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCC TGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACC ATCAGTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTC TCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCC GAGTGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCCCGAGTGGAGG CTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGG TCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCC GT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG04184.hp2 others(2): Show HG02622.hp1 HG03139.hp1 HG04184.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0029 a0001c0001t0061 others(2): Show a0001c0001t0023 a0001c0001t0029 a0001c0001t0061 a0002c0002t0002 a0002c0002t0053	a0001c0001t0023g0023 a0001c0001t0029g0031 a0001c0001t0061g0087 others(2): Show a0001c0001t0023g0023 a0001c0001t0029g0031 a0001c0001t0061g0087 a0002c0002t0002g0075 a0002c0002t0053g0106	5	106	0.0472	-451	c.101 others(19): Show c.101-18273_101-17823del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
C1orf159_chr1_1076823_1121089	1076910	GGGGGAGG others(444): Show GGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCT GAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTG GGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGG GGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCT GAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTG CGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCT GAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTG CC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	326	0.0031	-451	c.55 others(11): Show c.5532_*5982del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4912		chr1	TogoVar
CLASRP_chr19_45034045_45075956	45048311	TGGATCAC others(444): Show TGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAT CCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATTTTGGTGCATGC CTGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGA GGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAG AGTGAAACTCTTGTCTCAAAACAGACAAACAAAAAATTACTCTTAAAAAG CAAATAAATAAAAAGAAGCAGATTTTGTAGCCAGGCCCATCTGGGTTTGA ATCCTAGTTCTGCTTATTCCTAATGTCAGGCAGGTGGACCCCATGGCTTT GAGCCTCAGTTTACTCATCTGTAACATGGGCATAAGAATAGTACCAGCTG GGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAG GC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	364	0.0028	-451	c.100 others(17): Show c.100-3739_100-3289del	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
MLPH_chr2_237482251_237560322	237544191	GTGTGGGG others(444): Show GTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT AGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCAC AGTGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGGTGAATGGGCAC GGTAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGTGGTGAGTGGGGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGA GTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAG TGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTG TA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0032 a0034c0032	a0034c0032t0002 a0034c0032t0002	a0034c0032t0002g0049 a0034c0032t0002g0049	1	286	0.0035	-451	c.153 others(19): Show c.1539+1533_1540-1964del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MVB12B_chr9_126321829_126512040	126484495	TTCCACTG others(444): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACT GTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGT ACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACT GTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTA CCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGA GGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00609.hp2 others(25): Show HG00140.hp2 HG00323.hp2 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01515.hp1 HG01943.hp1 HG02027.hp2 HG02258.hp2 HG02280.hp2 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG04228.hp2 NA18979.hp2 NA18999.hp2 NA19004.hp2 NA19057.hp2 NA19062.hp2 NA19068.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0042 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0042 a0001c0003t0001 a0001c0005t0028	a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0102 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0042g0093 a0001c0003t0001g0169 a0001c0003t0001g0189 a0001c0005t0028g0128 a0001c0005t0028g0134	28	318	0.0881	-451	c.873 others(15): Show c.873+496_873+946del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085763	GTGATCTC others(444): Show GTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCT CTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT CA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0037 a0037	a0037c0133 a0037c0133	a0037c0133t0001 a0037c0133t0001	a0037c0133t0001g0123 a0037c0133t0001g0123	1	403	0.0025	-451	c.164 others(17): Show c.1644+393_1644+843del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085797	CTGCGTGG others(444): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGAT CTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTG GCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTC TGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATC TT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0002 a0028c0052t0002	a0028c0052t0002g0063 a0028c0052t0002g0063	1	403	0.0025	-451	c.164 others(17): Show c.1644+419_1644+869del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD2_chr5_1003802_1043943	1022873	AGTGGGTG others(444): Show AGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCATCCCA GCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCT CT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18997.hp2 HG01891.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0225 a0001c0001t0012g0123 a0001c0001t0001g0225 a0001c0001t0012g0123	2	319	0.0063	-451	c.142 others(17): Show c.142-9273_142-8823del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023826	CCAGCCCA others(444): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAG CCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTC CCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTT CCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 NA19090.hp1 HG02257.hp1 HG03225.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0095 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0005g0095 a0001c0001t0008g0087 a0001c0001t0008g0088	3	319	0.0094	-451	c.142 others(17): Show c.142-8319_142-7869del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024530	ATTGTCCC others(444): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACTCTCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTC TTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG01496.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0024 a0001c0001t0026g0024 a0001c0001t0001g0024 a0001c0001t0026g0024	2	319	0.0063	-451	c.142 others(17): Show c.142-7581_142-7131del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024899	TTTGTCCC others(444): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTG TCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02040.hp2 HG02109.hp2 others(17): Show HG01106.hp2 HG02040.hp2 HG02109.hp2 HG02155.hp2 HG02572.hp1 HG02698.hp1 HG02970.hp1 HG03471.hp2 HG03491.hp2 HG03927.hp2 HG04184.hp2 NA18942.hp1 NA18967.hp2 NA18973.hp1 NA18986.hp2 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 others(1): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 others(16): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0192 a0001c0001t0002g0239 a0001c0001t0002g0246 a0002c0003t0002g0019 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102	20	319	0.0627	-451	c.142 others(17): Show c.142-7233_142-6783del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024921	TCTGTGGG others(444): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0104 a0007c0014t0018g0104	1	319	0.0031	-451	c.142 others(17): Show c.142-7212_142-6762del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(444): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02602.hp1 others(3): Show HG02258.hp1 HG02451.hp2 HG02602.hp1 HG03130.hp2 HG03942.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 a0001c0001t0074 a0001c0003t0036 a0001c0007t0002	a0001c0001t0002g0073 a0001c0001t0028g0044 a0001c0001t0029g0057 others(3): Show a0001c0001t0002g0073 a0001c0001t0028g0044 a0001c0001t0029g0057 a0001c0001t0074g0001 a0001c0003t0036g0056 a0001c0007t0002g0105	6	172	0.0349	-451	c.573 others(19): Show c.573+69221_573+69671del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
TCF3_chr19_1604292_1657615	1628321	CAGGGGAT others(444): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG GGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0226 a0001c0003t0001g0230 a0001c0003t0002g0275 a0001c0003t0001g0226 a0001c0003t0001g0230 a0001c0003t0002g0275	3	352	0.0085	-451	c.299 others(16): Show c.299-1346_299-896del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM2_chr5_166974029_168269157	167859472	TCAGCCTG others(444): Show TCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0005 a0002c0032t0005	a0002c0032t0005g0018 a0002c0032t0005g0018	1	54	0.0185	-451	c.503 others(19): Show c.503-16512_503-16062del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRNT1_chr3_3121940_3154023	3133702	CGCTCAGT others(444): Show CGCTCAGTGTTATGTGACGTCAGAAGGCCATCATGTTAAAATATAGCACG ATAGGGACAACTGATCACTCTCTTGAAGTCCGGAGCTCTTAGAACAGATG GTCTGTTTTTCTGTAGTAATGCTCACACCATGTCTTCCCACTCATAGCTC CCACTCACTGCCCCTTACCCCACCCCAGCCTCCAGTCGTCAAAATTTAAA GCTGTAAAGGGAAGACGTTCATGAAAATTTAATTAAAAGTTAACATTAAA AAGAGGTGACAGTTATAAAAGTTTTCTGACACATTAATGTATGGTCTTTT GAATTGCTAATAATAATTAACAATTGCTTACTATCAGAGGTGGCATTTGG AGCAAATAAACGTAGTTTGGGGATGATGAGATTCTGCATTCTTTGACTTT TAGGCTTAAGTTTACAGTTAAATTTAGTTACATTAGGTGTTATTTTCACT GA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show HG00609.hp2 HG02165.hp2 NA18940.hp2 NA18961.hp2 NA18965.hp1 NA18986.hp1 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211 a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211	8	402	0.0199	-451	c.149 others(17): Show c.149-3557_149-3107del	TRNT1	ENSG00000072756.18	transcript	ENST00000251607.11	protein_coding	2/7			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133291350	TCCCTCCG others(444): Show TCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTC CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTG TCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTC CGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACG CG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01361.hp2 HG01168.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0186 a0001c0001t0001g0201	2	284	0.0070	-451	c.121 others(18): Show c.1214+698_1214+1148del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR27_chr6_169452212_169707029	169609091	GTCGTGGG others(444): Show GTCGTGGGCAGCTCTGTCCCTGTGGCTTTGCGGAGCATAACCTCCCTCCC AGCTGCTTTCACAGCCTGGTGTTGAGTGTCTGCAGCTTTTCCGTGCTCAT GGTGCAAGCTGTAGATGGATCTATCATTCTGGGGTCTGGAGGATGGTGGC CCTCTTCTCACAGCTCCACTAGGCAGTGCCCCATTAGGGACTCTGTGTGG AGGCTCTGACCCCACAATTCCCCTTTGCACTGCCCTAGCAGAGGTTCTCC AAGGGAGCCCCACCCCTACAGAAAACATCTGCGTGGGCATCCAGGTGCTT CCATACATCTCCTGAAATCTAGGCAGAGGATCCCAAACTTCAGTGCTTGA CTTCTGTGCACCCGTAGGCCCAACATGATGTAGAAGCTGCCAAGGACTGG GGCTTGCACCCTCTGAAGCCATGGCATGAGCTCTATGTTGGCCCCTTTCA GC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02080.hp2 HG00423.hp2 HG02080.hp2	a0018 a0027 a0018 a0027	a0018c0021 a0027c0035 a0018c0021 a0027c0035	a0018c0021t0001 a0027c0035t0001 a0018c0021t0001 a0027c0035t0001	a0018c0021t0001g0144 a0027c0035t0001g0119 a0018c0021t0001g0144 a0027c0035t0001g0119	2	294	0.0068	-451	c.232 others(19): Show c.2321+4017_2321+4467del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	22/25			chr6	TogoVar
ACAP3_chr1_1287391_1312930	1297256	TGGGGCAG others(443): Show TGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGCGCGGG GCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACGGGCTTGGGGCAG GGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGCACGGGGCAGGGGC CATCCCCAGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATC CCCGGTGGCACATGTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGG CACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACG TGTGTGTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTG TGTGTGCACAGGCACGGGGCAGGGGCCATCCCCAGTGGCACGTGTGTGTG TGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGCACGGGCA C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG02970.hp1 others(2): Show HG02109.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0009 a0001c0001t0001g0018	5	295	0.0170	-450	c.112 others(17): Show c.1128+116_1128+565del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
AGO2_chr8_140515156_140640633	140622606	CGGGGGAA others(443): Show CGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT T	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0336 a0001c0003t0011g0336	1	338	0.0030	-450	c.22+ others(17): Show c.22+12429_22+12878del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
BOP1_chr8_144257045_144296438	144280909	CTTTCATA others(443): Show CTTTCATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTTTGG CCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACC AGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCA CTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA G	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	398	0.0025	-450	c.310 others(17): Show c.310-5055_310-4606del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281114	TCTCAGTT others(443): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC TCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC C	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	398	0.0025	-450	c.310 others(17): Show c.310-5260_310-4811del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
CROCC2_chr2_240901336_240998311	240908619	GGGTGACC others(443): Show GGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTC GGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC A	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0243 a0002c0011t0002g0243	1	350	0.0029	-450	c.78+ others(15): Show c.78+2079_78+2528del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977880	AGGAGCCC others(443): Show AGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA GGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAGCCTC T	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0213 a0010c0009t0001g0213	1	350	0.0029	-450	c.440 others(19): Show c.4402-4975_4402-4526del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979770	TGGAGCCC others(443): Show TGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCCGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA AGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCAGGAGCCCAGACTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTC A	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	350	0.0029	-450	c.440 others(19): Show c.4402-3055_4402-2606del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980629	GCCCAGGC others(443): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGG AGCCTCAGGATCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGTCAGGAGCCTCAGGA T	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG02897.hp1 others(3): Show HG01243.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0055 a0001 a0055	a0001c0001 a0055c0035 a0001c0001 a0055c0035	a0001c0001t0003 a0001c0001t0004 a0055c0035t0003 a0001c0001t0003 a0001c0001t0004 a0055c0035t0003	a0001c0001t0003g0003 a0001c0001t0003g0143 a0001c0001t0004g0303 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0143 a0001c0001t0004g0303 a0001c0001t0004g0319 a0055c0035t0003g0232	6	350	0.0171	-450	c.440 others(19): Show c.4402-2230_4402-1781del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPH7_chr9_137549444_137583925	137566307	CTGTCTGT others(443): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGG AAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT G	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01169.hp2 others(2): Show HG00735.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037	5	340	0.0147	-450	c.641 others(17): Show c.641-1603_641-1154del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FGFR2_chr10_121473332_121603444	121602994	TGCCTCCC others(443): Show TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCACT TAATTGTTTTTGTTTTGGTTTGGTTCGGTTTTTTGAGACAGGATCTTTCT CTGTCACCCAGACTGGAGGGCAGTGGCACAATCACAGCTCACTGCAGCCT CCAACTCCTGAGCTCACGCAAGCTTCCCACCTCAGCCTCCTGAGTAGCTG GGACTATAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTGTA GAGACAGGGGTCTCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCT CAAGTGATCCTCCCTCCTTAGCCTCCCAAAGCACTGAGATTACAGGCGTG AGCCACCATGCCCAGCCTCGCTTAGACATTTTTATTCAGGTGGTCCTCAT GGTTTGGAGAAACTTTGACACACGAGCAAGTCTCTTGAGGATTACTATCC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	240	0.0042	-450	c.-56 others(11): Show c.-5633_-5184del	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding		4551		chr10	TogoVar
GALNT9_chr12_132191372_132334589	132241685	ATACCCAT others(443): Show ATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTA CACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACAC ACAACACACCCCCTTCCAGGGGCCGTCCCTATCCCCATTAAACACACAAC ACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCT TCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCTTCCCT G	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19056.hp1 NA19085.hp2 NA18945.hp1 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177 a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177	3	183	0.0164	-450	c.107 others(19): Show c.1077+5775_1077+6224del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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Search Results (Total: 10000 hits)