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
GLOD4_chr17_754330_787280	762604	TATTTCAT others(129): Show TATTTCATCACCATCCAGGCCCCTGCCTGCACCTACTCAGTGTGTGATCT TCAGGGATGAAGGGGAATAATTTCATCACCATCCAGGCCCCGGCCTGCAC CTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	420	0.0024	-136	c.832 others(17): Show c.832-2502_832-2367del	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	ATGATGGT others(129): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGTGGT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03453.hp2 NA19030.hp1 others(1): Show HG03139.hp1 HG03453.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	4	397	0.0101	-136	c.49 others(11): Show c.4983_*5118del	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
HMCN1_chr1_185729391_186195949	186176907	GCCTGTAA others(129): Show GCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACGAGGTC AGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTGTCAA AAATACAAAAAAGATTAGCTGGGCGTGGTGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01099.hp2 others(18): Show HG00323.hp1 HG01069.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03942.hp2 NA21309.hp2	a0004 a0005 a0008 others(10): Show a0004 a0005 a0008 a0015 a0016 a0017 a0019 a0020 a0023 a0024 a0028 a0030 a0035	a0004c0002 a0005c0005 a0008c0009 others(10): Show a0004c0002 a0005c0005 a0008c0009 a0015c0012 a0016c0047 a0017c0054 a0019c0056 a0020c0055 a0023c0048 a0024c0044 a0028c0020 a0030c0021 a0035c0030	a0004c0002t0001 a0005c0005t0003 a0008c0009t0001 others(11): Show a0004c0002t0001 a0005c0005t0003 a0008c0009t0001 a0008c0009t0002 a0015c0012t0008 a0016c0047t0001 a0017c0054t0003 a0019c0056t0001 a0020c0055t0001 a0023c0048t0002 a0024c0044t0003 a0028c0020t0002 a0030c0021t0001 a0035c0030t0001	a0004c0002t0001g0014 a0004c0002t0001g0015 a0004c0002t0001g0016 others(18): Show a0004c0002t0001g0014 a0004c0002t0001g0015 a0004c0002t0001g0016 a0004c0002t0001g0017 a0004c0002t0001g0036 a0004c0002t0001g0072 a0005c0005t0003g0011 a0005c0005t0003g0012 a0005c0005t0003g0061 a0008c0009t0001g0084 a0008c0009t0002g0085 a0015c0012t0008g0001 a0016c0047t0001g0081 a0017c0054t0003g0027 a0019c0056t0001g0018 a0020c0055t0001g0013 a0023c0048t0002g0026 a0024c0044t0003g0071 a0028c0020t0002g0068 a0030c0021t0001g0067 a0035c0030t0001g0065	21	92	0.2283	-136	c.159 others(21): Show c.15944-1378_15944-1243del	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	103/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HRH1_chr3_11149493_11268557	11167117	CCCAGGCC others(129): Show CCCAGGCCCGTGACATCTGCTGTCCCCTGTATTCTCCAGGCCCGTGACAT CTGCTGTCCCCTGGCCTCTCCAGGCCCGTGACATCTGCTGTCCCCTGGCT TCTCCAGGCCCGTGACATCTGCTGTCCCCTGCATTCT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	352	0.0028	-136	c.-36 others(19): Show c.-36+12592_-36+12727del	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTT_chr4_3069681_3248957	3227356	TCCCTGTC others(129): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTG AAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCC CTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01081.hp2 others(31): Show HG00642.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp2 HG04228.hp1 NA18522.hp1 NA18950.hp2 NA19082.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0010 others(14): Show a0002 a0007 a0010 a0012 a0017 a0020 a0023 a0024 a0036 a0048 a0050 a0061 a0072 a0079 a0080 a0084 a0088	a0002c0001 a0007c0007 a0010c0009 others(17): Show a0002c0001 a0007c0007 a0010c0009 a0012c0012 a0012c0077 a0017c0018 a0020c0052 a0020c0079 a0023c0103 a0024c0047 a0036c0107 a0036c0108 a0048c0057 a0050c0065 a0061c0076 a0072c0096 a0079c0106 a0080c0110 a0084c0115 a0088c0120	a0002c0001t0002 a0007c0007t0003 a0010c0009t0003 others(17): Show a0002c0001t0002 a0007c0007t0003 a0010c0009t0003 a0012c0012t0003 a0012c0077t0003 a0017c0018t0003 a0020c0052t0003 a0020c0079t0003 a0023c0103t0003 a0024c0047t0008 a0036c0107t0018 a0036c0108t0018 a0048c0057t0003 a0050c0065t0003 a0061c0076t0003 a0072c0096t0003 a0079c0106t0003 a0080c0110t0003 a0084c0115t0017 a0088c0120t0017	a0002c0001t0002g0241 a0002c0001t0002g0281 a0007c0007t0003g0023 others(31): Show a0002c0001t0002g0241 a0002c0001t0002g0281 a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028 a0010c0009t0003g0276 a0010c0009t0003g0277 a0010c0009t0003g0288 a0010c0009t0003g0289 a0010c0009t0003g0291 a0012c0012t0003g0087 a0012c0012t0003g0095 a0012c0012t0003g0096 a0012c0077t0003g0094 a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 a0020c0052t0003g0292 a0020c0079t0003g0186 a0023c0103t0003g0029 a0024c0047t0008g0258 a0036c0107t0018g0065 a0036c0108t0018g0066 a0048c0057t0003g0098 a0050c0065t0003g0286 a0061c0076t0003g0099 a0072c0096t0003g0086 a0079c0106t0003g0074 a0080c0110t0003g0031 a0084c0115t0017g0202 a0088c0120t0017g0201	34	294	0.1157	-136	c.784 others(17): Show c.7849-907_7849-772del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
INO80D_chr2_205988721_206091174	205988745	TAACTAAA others(129): Show TAACTAAAATAAAATAAAATAAATAAAATAAAATAAAATAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAATAAAAT AAAATAAATAAAATAAATAAAATAAATAAAATAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 NA18612.hp1 others(3): Show HG00558.hp2 HG00621.hp1 NA18612.hp1 NA18975.hp1 NA18980.hp1 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0045 a0002c0002t0001 a0003c0007t0045	a0002c0002t0001g0106 a0002c0002t0001g0132 a0002c0002t0001g0164 others(3): Show a0002c0002t0001g0106 a0002c0002t0001g0132 a0002c0002t0001g0164 a0002c0002t0001g0185 a0002c0002t0001g0194 a0003c0007t0045g0159	6	334	0.0180	-136	c.15 others(13): Show c.15487_*15622del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4975		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132138260	TGGTGTGT others(129): Show TGGTGTGTGCGGAGAGGGGTGCGCCGGTGTACGTGGAGGGCGCTGGGTGT GTGTGCCGAGGACCGCGCCCACGTGTGTGGAGAGTATGCCGGGTGCGTGT GGAGAGGACCGCGCCCGCGTGTGTGGAGAGTACGCCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03098.hp2 others(1): Show HG01243.hp1 HG02965.hp2 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0019 a0001c0022 a0001c0048 a0001c0019 a0001c0022 a0001c0048	a0001c0019t0015 a0001c0022t0002 a0001c0048t0013 a0001c0019t0015 a0001c0022t0002 a0001c0048t0013	a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0022t0002g0080 others(1): Show a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0048t0013g0098	4	158	0.0253	-136	c.134 others(17): Show c.1344+113_1344+248del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDELR2_chr7_6456089_6489152	6463881	TGAAACAC others(129): Show TGAAACACCATCTCTAATAAAAATACAAAAATTAGGCTGGGCACAGTGGC TCATGCTTGTAATCCCAGCACTTGGGGAGGCTGAGGCAGGAGGATCACCT GAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01070.hp1 others(24): Show HG00099.hp1 HG00280.hp1 HG01070.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01993.hp1 HG02080.hp2 HG02109.hp1 HG02486.hp2 HG02735.hp2 HG02886.hp2 HG03041.hp2 HG03139.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 NA19043.hp1 NA19043.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0012 a0001c0001t0003g0031 a0001c0001t0003g0159 others(21): Show a0001c0001t0003g0012 a0001c0001t0003g0031 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0285 a0001c0001t0009g0192 a0001c0001t0009g0208	27	420	0.0643	-136	c.605 others(15): Show c.605-842_605-707del	KDELR2	ENSG00000136240.10	transcript	ENST00000258739.9	protein_coding	4/4			chr7	TogoVar
KIF26B_chr1_245149985_245714432	245614857	TTCGGATA others(129): Show TTCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGATGAG GAGATGCAGACCTTTAAAATCGGATAGGGATGAGGAGATGCAGACCTTTA AAATCGGATAGGGATGAGGAGATGCAGACCTTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(48): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01123.hp2 HG01261.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA18971.hp1 NA18999.hp2 NA19011.hp1 NA19030.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0014 a0015 a0018 a0021 a0022	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0044 a0001c0046 a0001c0053 a0001c0055 a0001c0063 a0002c0003 a0002c0008 a0002c0056 a0003c0030 a0005c0058 a0006c0015 a0007c0032 a0009c0057 a0011c0041 a0014c0024 a0015c0037 a0018c0043 a0021c0059 a0022c0023	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(46): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0001t0029 a0001c0001t0037 a0001c0001t0061 a0001c0001t0067 a0001c0002t0001 a0001c0002t0078 a0001c0004t0001 a0001c0004t0014 a0001c0004t0088 a0001c0007t0008 a0001c0007t0016 a0001c0007t0035 a0001c0007t0072 a0001c0009t0012 a0001c0009t0051 a0001c0010t0062 a0001c0012t0082 a0001c0013t0001 a0001c0013t0049 a0001c0014t0001 a0001c0016t0044 a0001c0016t0045 a0001c0044t0013 a0001c0046t0057 a0001c0053t0052 a0001c0055t0027 a0001c0063t0005 a0002c0003t0004 a0002c0003t0022 a0002c0003t0070 a0002c0003t0083 a0002c0008t0006 a0002c0056t0034 a0003c0030t0074 a0005c0058t0079 a0006c0015t0015 a0007c0032t0023 a0009c0057t0065 a0011c0041t0018 a0014c0024t0080 a0015c0037t0069 a0018c0043t0039 a0021c0059t0011 a0022c0023t0005	a0001c0001t0002g0046 a0001c0001t0008g0052 a0001c0001t0008g0118 others(48): Show a0001c0001t0002g0046 a0001c0001t0008g0052 a0001c0001t0008g0118 a0001c0001t0011g0084 a0001c0001t0012g0003 a0001c0001t0025g0072 a0001c0001t0029g0094 a0001c0001t0037g0119 a0001c0001t0061g0031 a0001c0001t0067g0013 a0001c0002t0001g0110 a0001c0002t0078g0005 a0001c0004t0001g0093 a0001c0004t0014g0077 a0001c0004t0088g0051 a0001c0007t0008g0067 a0001c0007t0016g0054 a0001c0007t0035g0129 a0001c0007t0072g0018 a0001c0009t0012g0099 a0001c0009t0051g0090 a0001c0010t0062g0038 a0001c0012t0082g0130 a0001c0013t0001g0056 a0001c0013t0049g0153 a0001c0014t0001g0100 a0001c0016t0044g0128 a0001c0016t0045g0098 a0001c0044t0013g0106 a0001c0046t0057g0079 a0001c0053t0052g0126 a0001c0055t0027g0080 a0001c0063t0005g0123 a0002c0003t0004g0092 a0002c0003t0004g0140 a0002c0003t0022g0006 a0002c0003t0070g0065 a0002c0003t0083g0085 a0002c0008t0006g0095 a0002c0056t0034g0141 a0003c0030t0074g0021 a0005c0058t0079g0043 a0006c0015t0015g0075 a0007c0032t0023g0160 a0009c0057t0065g0023 a0011c0041t0018g0150 a0014c0024t0080g0010 a0015c0037t0069g0048 a0018c0043t0039g0133 a0021c0059t0011g0082 a0022c0023t0005g0117	51	160	0.3188	-136	c.209 others(19): Show c.2098+2919_2098+3054del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87753534	TCACGCCT others(129): Show TCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTT GAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTC TACTGAAAATACAAAAAATTACCTAGGCGTGGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 HG02572.hp1 HG03209.hp2	a0015 a0018 a0015 a0018	a0015c0013 a0018c0016 a0015c0013 a0018c0016	a0015c0013t0001 a0018c0016t0001 a0015c0013t0001 a0018c0016t0001	a0015c0013t0001g0130 a0018c0016t0001g0131 a0015c0013t0001g0130 a0018c0016t0001g0131	2	380	0.0053	-136	c.369 others(17): Show c.369+1524_369+1659del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	4/11			chr16	TogoVar
KLK4_chr19_50901351_50916395	50913492	GTGTCTGT others(129): Show GTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTGTGGCTCCGCACCTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCCTC CCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG03041.hp1 others(4): Show HG02258.hp1 HG02615.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 others(4): Show a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0002t0004g0034 a0002c0003t0004g0007 a0002c0003t0005g0139	7	414	0.0169	-136	c.-23 others(11): Show c.-2301_-2166del	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2098		chr19	TogoVar
KLK6_chr19_50953631_50974591	50961013	CTCGGCCT others(129): Show CTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACTGTGCCCATC CTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGATCAGGC TGGTCTCGAACTCCTGACCCCAGGTGATCCTCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01255.hp1 others(7): Show HG00738.hp1 HG01099.hp1 HG01255.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03669.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0176 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0223 a0003c0004t0001g0101 a0003c0004t0001g0161 a0003c0004t0001g0187	10	316	0.0317	-136	c.582 others(15): Show c.582+595_582+730del	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KTN1_chr14_55575207_55689579	55604721	CAAATGAA others(129): Show CAAATGAATAATAAAGACTATTGTGGAAGAGAGTTGAAATTACATATTCA TAGGTTTGATTTAAGCTGGGTTTTGAAGGATAGGTGGAGATTTCATACAA AGGACATGGCAAAGATTTTTAGATTTGATTGCAGGGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG01243.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0296 a0001c0001t0001g0299	2	314	0.0064	-136	c.-30 others(17): Show c.-30-7297_-30-7162del	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	1/43			chr14	TogoVar
LCNL1_chr9_136977993_136990758	136978550	TGGGCGTG others(129): Show TGGGCGTGGTCAGCTCCTGGGGCGGGGACGTGAGGGGCGGGGTCAGCTCC TAGGGGGGCATGGGGCGTGAGGGGCGCGGTCAGTTCCCTGGTTGTGGACA TGAAGGGCGGGGCCAGCTCTTGGGGCGGGGTCGTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-136	c.-50 others(11): Show c.-5036_-4901del	LCNL1	ENSG00000214402.7	transcript	ENST00000408973.3	protein_coding		4442		chr9	TogoVar
LDLRAD2_chr1_21807265_21830225	21818009	TGGGATTA others(129): Show TGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTTTTAG TAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCTGACC TCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0041 a0002c0003t0041	a0002c0003t0041g0233 a0002c0003t0041g0233	1	454	0.0022	-136	c.643 others(17): Show c.643+1938_643+2073del	LDLRAD2	ENSG00000187942.12	transcript	ENST00000344642.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	886545	ATTCCCCA others(129): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02074.hp1 others(2): Show HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02165.hp2 NA19002.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0066 a0001c0001 a0015c0066	a0001c0001t0001 a0015c0066t0001 a0001c0001t0001 a0015c0066t0001	a0001c0001t0001g0167 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0167 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0227 a0015c0066t0001g0153	5	294	0.0170	-136	c.729 others(17): Show c.729+6326_729+6461del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF1_chr16_848634_975984	953514	CCCCAAAC others(129): Show CCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCC TACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCACTCCAAACCAGCCTCCTACACGTCCACACAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG02451.hp1 HG02896.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0006 a0006c0021t0001 a0006c0021t0006	a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0021t0001g0020 a0006c0021t0006g0019	2	294	0.0068	-136	c.503 others(15): Show c.503+707_503+842del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953515	CCCAAACC others(129): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACTCCAAACCAGCCTCCTACACGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02280.hp1 HG02818.hp2 others(1): Show HG01978.hp2 HG02280.hp1 HG02818.hp2 NA18944.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0025 a0001c0001 a0001c0003 a0004c0025	a0001c0001t0001 a0001c0003t0001 a0004c0025t0007 a0001c0001t0001 a0001c0003t0001 a0004c0025t0007	a0001c0001t0001g0204 a0001c0003t0001g0202 a0004c0025t0007g0259 others(1): Show a0001c0001t0001g0204 a0001c0003t0001g0202 a0004c0025t0007g0259 a0004c0025t0007g0294	4	294	0.0136	-136	c.503 others(15): Show c.503+706_503+841del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1477717	ACCTGCTG others(129): Show ACCTGCTGCCTACATCAGAACATCTGGCTCTCTGATCTACACTCACCCCC GTCAGTGCTCCTGGGAGCGCCTGCTGCCTACATCAGAACATCTGGCTCTC TGATCTACACTCACCCCCGTCAGTGCTCCTGGGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04228.hp1 NA18906.hp1 others(2): Show HG02723.hp1 HG04228.hp1 NA18906.hp1 NA18964.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0013 a0001c0002t0004 a0001c0004t0013 a0001c0001t0013 a0001c0002t0004 a0001c0004t0013	a0001c0001t0013g0040 a0001c0001t0013g0053 a0001c0002t0004g0143 others(2): Show a0001c0001t0013g0040 a0001c0001t0013g0053 a0001c0002t0004g0143 a0001c0002t0004g0273 a0001c0004t0013g0197	5	386	0.0130	-136	c.817 others(15): Show c.817-367_817-232del	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	8/13			chr5	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(129): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00609.hp1 others(85): Show HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp1 HG02895.hp1 HG03017.hp1 HG03490.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0005g0121 a0001c0001t0005g0124 a0002c0002t0001g0078 a0002c0002t0001g0126	88	238	0.3698	-136	c.179 others(19): Show c.1791+1301_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132602066	CGATTCTG others(129): Show CGATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGAC GCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGCC TCCGATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02572.hp2 HG00639.hp1 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0020 a0003c0003t0003g0016 a0003c0003t0001g0020 a0003c0003t0003g0016	2	390	0.0051	-136	c.12 others(11): Show c.1200_*1335del	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		1084		chr12	TogoVar
LRP12_chr8_104484236_104594258	104548252	TTATATTA others(129): Show TTATATTAATATATGATATATATTATATTAATATATCATATATTTATATA ATATATATTATATAAATATATAATATATATTATATAAATATATAAATATA TAATATATATTATATAAATATATTATATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0267 a0001c0001t0006g0270 others(1): Show a0001c0001t0006g0263 a0001c0001t0006g0267 a0001c0001t0006g0270 a0001c0001t0006g0271	4	318	0.0126	-136	c.80- others(17): Show c.80-16425_80-16290del	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/6			chr8	TogoVar
LSP1_chr11_1848084_1897263	1873871	GAGGGAGG others(129): Show GAGGGAGGCTGGCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGA GGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGCCCGGCGG AGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01943.hp1 others(22): Show HG01243.hp2 HG01433.hp2 HG01943.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG04115.hp1 NA18939.hp2 NA18954.hp2 NA18960.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0002c0001t0004 a0001c0003t0001 a0002c0001t0001 a0002c0001t0004	a0001c0003t0001g0285 a0002c0001t0001g0008 a0002c0001t0001g0029 others(17): Show a0001c0003t0001g0285 a0002c0001t0001g0008 a0002c0001t0001g0029 a0002c0001t0001g0075 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0197 a0002c0001t0004g0030 a0002c0001t0004g0190	25	360	0.0694	-136	c.54- others(15): Show c.54-6207_54-6072del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1873888	CAGGGAGC others(129): Show CAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGA GGAGGGAGGCCGGCAGAGCAGGGAGCCCGGCGGAGGAGGGAGGCCGGCGG AGGAGGGAGGCTGGCAGAGCAGGGAGGCCGGCAGAGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG02976.hp2 HG00735.hp1 HG01071.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0041 a0002c0001t0002g0175 a0002c0001t0002g0016 a0002c0001t0002g0041 a0002c0001t0002g0175	3	360	0.0083	-136	c.54- others(15): Show c.54-6192_54-6057del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2071704	AGGCCTCC others(129): Show AGGCCTCCATCAAAACCCAAAGGTTTCTCACCGGAGCAGGGAGCGCTTTC ACTGTTCCTGGAGGGTGGTGGCCTCCATCAAAACCCAAAGGTTTTCCACC AGAGCTAGGAGAGCTTCCACTCTTCCCGGAGGGTGGC	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0044 a0002c0012t0001g0044	1	264	0.0038	-136	c.107 others(19): Show c.1074-2502_1074-2367del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	492764	CGTATTTT others(129): Show CGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTCGGAT TACAGGCGCCCGCCACCACGCCTGGCTAATCTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0027 a0016c0029t0001g0027	2	364	0.0055	-136	c.-37 others(11): Show c.-3735_-3600del	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		3721		chr19	TogoVar
MADCAM1_chr19_491486_510343	492842	CGGCCTCC others(129): Show CGGCCTCCCAAAGTGCTCGGATTACAGGCGCCCGCCACCACGCCTGGCTA ATCTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCCATCTCCTGACCTCGTGATCCACCCGCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(179): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0015 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0029 a0030	a0001c0001 a0001c0012 a0001c0016 others(26): Show a0001c0001 a0001c0012 a0001c0016 a0001c0024 a0001c0036 a0002c0005 a0002c0013 a0002c0014 a0002c0032 a0003c0002 a0004c0034 a0005c0015 a0005c0023 a0009c0010 a0009c0051 a0011c0018 a0012c0022 a0013c0028 a0013c0044 a0015c0020 a0019c0026 a0020c0033 a0021c0052 a0024c0031 a0025c0042 a0026c0035 a0027c0050 a0029c0046 a0030c0030	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0001c0016t0001 a0001c0024t0001 a0001c0036t0002 a0002c0005t0002 a0002c0013t0002 a0002c0014t0001 a0002c0014t0002 a0002c0032t0001 a0003c0002t0001 a0003c0002t0002 a0004c0034t0001 a0005c0015t0001 a0005c0023t0001 a0009c0010t0002 a0009c0051t0001 a0011c0018t0002 a0012c0022t0001 a0013c0028t0001 a0013c0044t0002 a0015c0020t0001 a0019c0026t0001 a0020c0033t0001 a0021c0052t0001 a0024c0031t0001 a0025c0042t0001 a0026c0035t0001 a0027c0050t0002 a0029c0046t0002 a0030c0030t0001	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0176 others(137): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0002g0008 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0012t0001g0017 a0001c0012t0001g0018 a0001c0012t0001g0178 a0001c0012t0001g0198 a0001c0012t0001g0199 a0001c0012t0001g0206 a0001c0016t0001g0087 a0001c0024t0001g0058 a0001c0024t0001g0088 a0001c0036t0002g0174 a0002c0005t0002g0148 a0002c0005t0002g0165 a0002c0013t0002g0009 a0002c0013t0002g0083 a0002c0013t0002g0084 a0002c0013t0002g0090 a0002c0013t0002g0109 a0002c0014t0001g0034 a0002c0014t0001g0172 a0002c0014t0002g0020 a0002c0014t0002g0241 a0002c0032t0001g0092 a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0013 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0024 a0003c0002t0001g0045 a0003c0002t0001g0047 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0050 a0003c0002t0001g0053 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0097 a0003c0002t0001g0108 a0003c0002t0002g0014 a0003c0002t0002g0023 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0056 a0003c0002t0002g0095 a0004c0034t0001g0072 a0005c0015t0001g0188 a0005c0015t0001g0270 a0005c0015t0001g0271 a0005c0023t0001g0089 a0009c0010t0002g0019 a0009c0010t0002g0036 a0009c0010t0002g0038 a0009c0010t0002g0193 a0009c0010t0002g0222 a0009c0010t0002g0223 a0009c0010t0002g0232 a0009c0010t0002g0240 a0009c0051t0001g0200 a0011c0018t0002g0033 a0011c0018t0002g0177 a0011c0018t0002g0260 a0012c0022t0001g0041 a0012c0022t0001g0268 a0013c0028t0001g0018 a0013c0044t0002g0008 a0015c0020t0001g0025 a0015c0020t0001g0057 a0019c0026t0001g0266 a0019c0026t0001g0267 a0020c0033t0001g0065 a0021c0052t0001g0269 a0024c0031t0001g0094 a0025c0042t0001g0184 a0026c0035t0001g0085 a0027c0050t0002g0008 a0029c0046t0002g0221 a0030c0030t0001g0093	182	364	0.5000	-136	c.-36 others(11): Show c.-3657_-3522del	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		3643		chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19356682	GAATGTAG others(129): Show GAATGTAGTTGTAGAATGTGTGACTTTCCCAAACAGATAACCTTCACAAT TCTGAGTTAGGTGTTATTGTTTTGCCCATTTTGCAGACAAGGAAACTGAG CCATAGAGCAGTTAAAGGTACACAGCTACTCTGTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(32): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1	a0000 a0002 a0005 others(2): Show a0000 a0002 a0005 a0006 a0007	a0000c0021 a0002c0002 a0002c0003 others(4): Show a0000c0021 a0002c0002 a0002c0003 a0002c0006 a0005c0007 a0006c0018 a0007c0022	a0000c0021t0007 a0002c0002t0003 a0002c0002t0005 others(14): Show a0000c0021t0007 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0022 a0002c0003t0003 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0019 a0002c0006t0013 a0002c0006t0017 a0005c0007t0003 a0006c0018t0007 a0007c0022t0003	a0000c0021t0007g0054 a0002c0002t0003g0026 a0002c0002t0003g0039 others(32): Show a0000c0021t0007g0054 a0002c0002t0003g0026 a0002c0002t0003g0039 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0143 a0002c0002t0003g0150 a0002c0002t0005g0019 a0002c0002t0005g0020 a0002c0002t0007g0130 a0002c0002t0008g0013 a0002c0002t0008g0015 a0002c0002t0008g0016 a0002c0002t0011g0008 a0002c0002t0022g0161 a0002c0003t0003g0128 a0002c0003t0003g0141 a0002c0003t0005g0018 a0002c0003t0005g0023 a0002c0003t0005g0024 a0002c0003t0007g0142 a0002c0003t0009g0155 a0002c0003t0009g0156 a0002c0003t0009g0157 a0002c0003t0019g0152 a0002c0006t0013g0011 a0002c0006t0017g0031 a0005c0007t0003g0129 a0006c0018t0007g0132 a0007c0022t0003g0079	35	163	0.2147	-136	c.39 others(11): Show c.3931_*4066del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding		3376		chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452215	GAAGAGAA others(129): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02809.hp1 HG03471.hp1 others(1): Show HG00280.hp1 HG02809.hp1 HG03471.hp1 NA18983.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0016 a0008c0020 a0001c0001 a0002c0016 a0008c0020	a0001c0001t0001 a0002c0016t0004 a0008c0020t0002 a0001c0001t0001 a0002c0016t0004 a0008c0020t0002	a0001c0001t0001g0081 a0001c0001t0001g0101 a0002c0016t0004g0014 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0101 a0002c0016t0004g0014 a0008c0020t0002g0028	4	163	0.0245	-136	c.995 others(17): Show c.995+4562_995+4697del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785671	TTTCTCCC others(129): Show TTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(14): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01433.hp2 HG01891.hp2 HG02056.hp1 HG02056.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG03654.hp1 HG03831.hp1 NA18985.hp1 NA19077.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0016 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0002t0005 a0001c0002t0019 a0001c0002t0048	a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0163 others(14): Show a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0175 a0001c0001t0016g0170 a0001c0002t0005g0207 a0001c0002t0005g0222 a0001c0002t0005g0268 a0001c0002t0005g0270 a0001c0002t0005g0271 a0001c0002t0005g0276 a0001c0002t0005g0278 a0001c0002t0005g0279 a0001c0002t0005g0282 a0001c0002t0019g0265 a0001c0002t0019g0269 a0001c0002t0048g0267	17	310	0.0548	-136	c.124 others(17): Show c.124-5044_124-4909del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEGF11_chr15_65890299_66258750	66039746	TCTGAGCC others(129): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02630.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0002c0002t0001g0037 a0001c0001t0001g0032 a0002c0002t0001g0037	2	176	0.0114	-136	c.394 others(19): Show c.394+54520_394+54655del	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MLPH_chr2_237482251_237560322	237542734	GGGGGACA others(129): Show GGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGCGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0032 a0034c0032	a0034c0032t0002 a0034c0032t0002	a0034c0032t0002g0049 a0034c0032t0002g0049	1	286	0.0035	-136	c.153 others(16): Show c.1539+80_1539+215del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543095	GGGACAGT others(129): Show GGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTA GGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0002 a0021c0026t0002	a0021c0026t0002g0038 a0021c0026t0002g0038	1	286	0.0035	-136	c.153 others(17): Show c.1539+439_1539+574del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543510	GGGGGACA others(129): Show GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp1 HG02965.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0014 a0003c0003 a0004c0014	a0003c0003t0002 a0004c0014t0001 a0003c0003t0002 a0004c0014t0001	a0003c0003t0002g0256 a0004c0014t0001g0230 a0003c0003t0002g0256 a0004c0014t0001g0230	2	286	0.0070	-136	c.153 others(18): Show c.1539+873_1539+1008del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543836	TGGGCACG others(129): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0087 a0005c0004t0004g0087	1	286	0.0035	-136	c.153 others(19): Show c.1539+1178_1539+1313del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543906	GGAGGACA others(129): Show GGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0222 a0001c0037t0001g0222	1	286	0.0035	-136	c.153 others(19): Show c.1539+1249_1539+1384del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787726	CATATATA others(129): Show CATATATACATATATATTATATATATTATATATATCATATATACATATAT ATTATATATATCATATATAATATATATTATATATATTATATATAATATAT ATTATATATACATATATATTATATATACATATATATT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0321 a0007c0025t0001g0321	1	378	0.0027	-136	c.277 others(17): Show c.277-1746_277-1611del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649163	TATATAAT others(129): Show TATATAATATATTATATATAAAATAATATATATTATATATAAAATAATAT ATAATATATTATATATAAAATAATATATATTATATATAAAATAATATATA ATATATTATATATAAAATAATATATATTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp2 HG03239.hp2 others(1): Show HG01192.hp1 HG01515.hp2 HG03239.hp2 HG04228.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0013 others(1): Show a0001c0001 a0001c0002 a0004c0013 a0005c0048	a0001c0001t0011 a0001c0002t0010 a0004c0013t0011 others(1): Show a0001c0001t0011 a0001c0002t0010 a0004c0013t0011 a0005c0048t0003	a0001c0001t0011g0039 a0001c0002t0010g0138 a0004c0013t0011g0168 others(1): Show a0001c0001t0011g0039 a0001c0002t0010g0138 a0004c0013t0011g0168 a0005c0048t0003g0019	4	174	0.0230	-136	c.373 others(19): Show c.3734-2461_3734-2326del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688255	TATTATGT others(129): Show TATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACA TATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAA TATACACATATATATAATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01070.hp2 others(17): Show HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01255.hp2 HG01358.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02559.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03704.hp1 HG03704.hp2 NA18747.hp1 NA18945.hp1 NA19004.hp1 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0007t0003 a0007c0011t0002	a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0230 others(17): Show a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0299 a0001c0001t0002g0322 a0001c0003t0001g0228 a0001c0003t0001g0238 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0136 a0001c0003t0003g0140 a0001c0003t0017g0123 a0001c0007t0003g0129 a0007c0011t0002g0118	20	352	0.0568	-136	c.37 others(11): Show c.3758_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2892		chr15	TogoVar
MZF1_chr19_58556932_58578335	58565284	GGGTTTCT others(129): Show GGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGA TCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACC GCACCTAGCCAATTTTTTGTATTTTTAGTAGAGACAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02723.hp2 others(2): Show HG02055.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 NA18906.hp2	a0003 a0009 a0003 a0009	a0003c0014 a0009c0011 a0003c0014 a0009c0011	a0003c0014t0001 a0009c0011t0001 a0003c0014t0001 a0009c0011t0001	a0003c0014t0001g0050 a0009c0011t0001g0048 a0009c0011t0001g0128 a0003c0014t0001g0050 a0009c0011t0001g0048 a0009c0011t0001g0128	5	414	0.0121	-136	c.773 others(17): Show c.773-1916_773-1781del	MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding	5/5			chr19	TogoVar
NAA60_chr16_3438680_3491953	3477522	TGGGCGCA others(129): Show TGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGT GGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGT GAAACCTCATCTCTATTAAAAATACAAAAATTGGGCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01070.hp1 others(28): Show HG00408.hp1 HG00408.hp2 HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02135.hp2 HG03942.hp1 NA18944.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA19003.hp2 NA19005.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0109 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0311	31	376	0.0825	-136	c.110 others(17): Show c.110+1234_110+1369del	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NDUFA12_chr12_94966333_95008697	94993231	ATAATCCC others(129): Show ATAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGGATCACTTGAGCCTAG GAGTTTGAGGCCAGCCTGGGCAACATGGCGAAATCGCATTTCTATAAAAA ATACAAAAATTAGGCCGAGTGCAGTGGCTCATGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(208): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(166): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0061	211	442	0.4774	-136	c.257 others(15): Show c.257+803_257+938del	NDUFA12	ENSG00000184752.14	transcript	ENST00000327772.7	protein_coding	3/3			chr12	TogoVar
NDUFS1_chr2_206109817_206164444	206119543	AGCTGGGA others(129): Show AGCTGGGATTACAGGCATATGCCACCATGGCTGGCTAATTTTGTATTTTT AGTAGAGACAGAGTTTCACCATGTCGGACAGGCTGGTCTCGAAAACTCCT GACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA19007.hp1 NA19056.hp1 NA18747.hp1 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0011 a0001c0002t0021g0011	3	336	0.0089	-136	c.45 others(11): Show c.4506_*4641del	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	19/19	4506		chr2	TogoVar
NEB_chr2_151480339_151739476	151551097	AGCTGGGA others(129): Show AGCTGGGATTACAGGCATGCACTGCCATATCTGGCTAATTTTTTGTATTT TTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCT GACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0046 a0046	a0046c0091 a0046c0091	a0046c0091t0001 a0046c0091t0001	a0046c0091t0001g0017 a0046c0091t0001g0017	1	188	0.0053	-136	c.199 others(19): Show c.19944+505_19944+640del	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	129/181			chr2	TogoVar
NEMP1_chr12_57050643_57083791	57075748	TTTGAGGT others(129): Show TTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAATCCCAC TCTACTAAAAATACAAAAAAATTACCCGGGCATGGTGGCACACACCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18952.hp1 HG01123.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	398	0.0050	-136	c.127 others(17): Show c.127+2735_128-2837del	NEMP1	ENSG00000166881.10	transcript	ENST00000300128.9	protein_coding	1/8			chr12	TogoVar
NXN_chr17_794310_984776	938447	TGAGGCAG others(129): Show TGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGATCAGCCCAGCCAACA TGGCGAAACCCCCGTCTCTACTAAAAAAATACAAAACTTAGCCGGGCTTA GTGACGAGCCCCTGTAGTCCCAGCTACTTGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02965.hp1 others(2): Show HG01192.hp2 HG01891.hp1 HG02965.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0025 a0001c0001t0033	a0001c0001t0001g0063 a0001c0001t0001g0201 a0001c0001t0021g0019 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0201 a0001c0001t0021g0019 a0001c0001t0025g0200 a0001c0001t0033g0241	5	242	0.0207	-136	c.360 others(19): Show c.360+40736_360+40871del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODR4_chr1_186370838_186426375	186416361	TCCCATCT others(129): Show TCCCATCTCAACTAAAAATACAAAAATTAGGCCAGGTGTGATGGCTCATG GCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGATGT CAGGAGTTGGGGACCAGCCTGGCCAACATGGCAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04184.hp1 HG02738.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0243 a0001c0001t0001g0251	2	410	0.0049	-136	c.118 others(19): Show c.1187-1175_1187-1040del	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383386	GTCATGGA others(129): Show GTCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAA GTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02572.hp2 others(3): Show HG01884.hp1 HG01891.hp1 HG02572.hp2 HG03130.hp1 HG03139.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0008 a0002c0002t0005 a0002c0002t0008	a0002c0002t0005g0006 a0002c0002t0005g0063 a0002c0002t0008g0013 others(1): Show a0002c0002t0005g0006 a0002c0002t0005g0063 a0002c0002t0008g0013 a0002c0002t0008g0020	6	403	0.0149	-136	c.-15 others(19): Show c.-158-1283_-158-1148del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383802	GAAAGCAC others(129): Show GAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02145.hp2 others(13): Show HG01099.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0008 a0002c0002t0035 a0001c0001t0006 a0002c0002t0008 a0002c0002t0035	a0001c0001t0006g0007 a0001c0001t0006g0044 a0002c0002t0008g0013 others(3): Show a0001c0001t0006g0007 a0001c0001t0006g0044 a0002c0002t0008g0013 a0002c0002t0008g0020 a0002c0002t0008g0059 a0002c0002t0035g0013	16	403	0.0397	-136	c.-15 others(17): Show c.-158-868_-158-733del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384251	AGTGTTTC others(129): Show AGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAG CACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0034 a0002c0005t0034	a0002c0005t0034g0069 a0002c0005t0034g0069	1	403	0.0025	-136	c.-15 others(17): Show c.-158-449_-158-314del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar

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