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
NCAPD3_chr11_134145113_134228967	134166362	ACACTCAC others(290): Show ACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGA TGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCA GCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGC TTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCAC ACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCT TGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	370	0.0027	-297	c.357 others(19): Show c.3573+1337_3573+1633del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
NCAPD3_chr11_134145113_134228967	134166367	CACTTGTG others(290): Show CACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGC TTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACA CTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGG GAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCG TGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAG AGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0294 a0001c0001t0007g0294	1	370	0.0027	-297	c.357 others(19): Show c.3573+1332_3573+1628del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
PDE9A_chr21_42648621_42780509	42773545	CGCCTGTA others(290): Show CGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGCGGCGGATCACGAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTTTAAACA CAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTG AGAGGCTGAGGCAGGAGAATGGAGTGAACCCAGGAGGCGGAGATTGCCGT GAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTT CGTCTCAAAAAATAAAAATAAATAAATAAGCCGGGCGCAGTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03669.hp1 HG03927.hp2 HG03491.hp2 HG03669.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0004 a0001c0002t0002g0128 a0001c0002t0003g0028 a0001c0002t0001g0004 a0001c0002t0002g0128 a0001c0002t0003g0028	3	324	0.0093	-297	c.176 others(19): Show c.1768+1033_1768+1329del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF21B_chr22_44876162_45015005	44884116	TCACCATC others(290): Show TCACCATCATGATCACCATTATCACCACCACCACCATCACTGTGATCAGC ACCATCACCACCATCATTACCACCATCACCACCACGATCACCAACGTCAC CACCACCACCACCACTGTGATCAGCACCATCACCACCATCATCACTACCA CCATCACCACCACCATGATCACCATTATCACCACCACCACCATCACTGTG ATCAGCACCATCACCACCATCATTAGCACCATCACCACCACGATCACCAA CGTCACCACCACCACCATCACGGTGATGAGCACCATCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	300	0.0033	-297	c.137 others(18): Show c.1377+1013_1378-813del	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
POTEM_chr14_18962434_19008752	19008404	GCCTTGCA others(290): Show GCCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCCTGGCTTTGCCTGG CGTGCACACAGCTCAGTGCAACTACTCTGCTACAAATGTAGCCACAGAGA GGAAACGAGCAGCAGGCTCAGGAGCAGGTTGTGCATTGCCTTTGGGGCTC TAGTCCATGCCTCAGGGGTCGTGTAGCACTGCGGGCTTCTTGGTTGCCTA GAGGCAGACCACAGGCCGTCTTGAGGAGGACTTTATGTTCAGGTGCAGAA CGCAGCCAGGATTACCATCCAGGGGGGCCTTCTGTAGCCCTGGCCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0013 a0010c0014t0013	a0010c0014t0013g0066 a0010c0014t0013g0066	1	67	0.0149	-297	c.97 others(12): Show c.9740_*10036del	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		4653		chr14	TogoVar
PPP2R3B_chrX_328933_391907	342570	TGAGACCT others(290): Show TGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCG GGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGA GGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAAC GGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGC CAACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACC TCAGCAACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	-297	c.103 others(17): Show c.1037-936_1037-640del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782293	CTTCCCCT others(290): Show CTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCT CTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGGC TCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCC TCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCGCTCCCTCTCCCCCTT CCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCC TCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0017 a0002c0002t0004g0017	1	138	0.0073	-297	c.94- others(15): Show c.94-3690_94-3394del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50434409	GGCGCGGA others(290): Show GGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGG AGGAGGGCCGGGGGATGGATGCTGGGCAGGGGCCGGGCATTTGCCCTGGA GGTGAACCTGGAGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGGCCGGGC ATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGG CAGGGGCCGGGCATTTGCTCTGGAGGAGGGCCGGGGGCATGGATGCTGGG CAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp2 others(7): Show HG01884.hp2 HG01891.hp1 HG02280.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0020 a0001 a0020	a0001c0008 a0020c0019 a0001c0008 a0020c0019	a0001c0008t0004 a0020c0019t0004 a0001c0008t0004 a0020c0019t0004	a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 others(7): Show a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 a0001c0008t0004g0297 a0001c0008t0004g0299 a0001c0008t0004g0301 a0001c0008t0004g0302 a0001c0008t0004g0304 a0001c0008t0004g0338 a0020c0019t0004g0292	10	340	0.0294	-297	c.140 others(17): Show c.1401-548_1401-252del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434442	TCTGGAGG others(290): Show TCTGGAGGTGAACCTGGAGGAGGGCCGGGGGATGGATGCTGGGCAGGGGC CGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACG CTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCG GGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGAGGGCCG GGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCT GGAGGAGGGCCGGGTGCGCGGACACTGGGCAGGGGCCGGGCACTTGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18942.hp2 NA19064.hp1 others(1): Show HG00423.hp2 NA18942.hp2 NA19064.hp1 NA19090.hp1	a0004 a0008 a0004 a0008	a0004c0009 a0008c0012 a0004c0009 a0008c0012	a0004c0009t0030 a0008c0012t0020 a0004c0009t0030 a0008c0012t0020	a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 others(1): Show a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079	4	340	0.0118	-297	c.140 others(17): Show c.1401-493_1401-197del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798453	CGGTGGTG others(290): Show CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTG GTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	178	0.0056	-297	c.185 others(19): Show c.1855-5394_1855-5098del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123807	TTAGGGTC others(290): Show TTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGC GGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTC ACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAG GGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	286	0.0035	-297	c.335 others(19): Show c.335-11454_335-11158del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKN_chr6_161342417_162732766	162472495	TTTTGAGA others(290): Show TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC GCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03704.hp1 HG03041.hp2 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0003 a0001c0001t0001 a0003c0006t0003	a0001c0001t0001g0028 a0003c0006t0003g0004 a0001c0001t0001g0028 a0003c0006t0003g0004	2	32	0.0625	-297	c.8-2 others(15): Show c.8-29319_8-29023del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PSME4_chr2_53859069_53975993	53972038	AGTGGCTC others(290): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAGTTAGCCGGGCGTGGTGGCGGACGCCTG TAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCGGA AGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCAGGGCACTCCAGCCTGGG CAACAAGAGCGAAACTCCGTCTCAAAAAATAAAAGGGCCAGGCGCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0018 a0002c0010t0002g0051 a0002c0010t0002g0018 a0002c0010t0002g0051	2	384	0.0052	-297	c.-15 others(11): Show c.-1551_-1255del	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		1046		chr2	TogoVar
PTPRA_chr20_2868481_3043669	3041109	ACAGTGAG others(290): Show ACAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTCAAAGAGTGA GACCCTGTCTCAAAAAAAAAAAAAAATAGGCCGGGCACAGTGGCTAATGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACCTGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACC GGGGAGGCTGAGGCAAGAGAATTGCTGGAACCTGGGAGGCAGAAACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18939.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0002c0002 a0003c0009 a0004c0010 a0005c0018 a0007c0017	a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 others(10): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0014t0007 a0001c0016t0001 a0002c0002t0001 a0003c0009t0001 a0004c0010t0001 a0005c0018t0004 a0007c0017t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(81): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0004t0002g0176 a0001c0004t0002g0177 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0193 a0001c0004t0002g0194 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0002g0209 a0001c0004t0004g0171 a0001c0004t0004g0173 a0001c0004t0004g0174 a0001c0004t0004g0175 a0001c0004t0004g0195 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0001g0152 a0001c0007t0001g0153 a0001c0007t0001g0155 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0052 a0001c0008t0001g0054 a0001c0008t0001g0055 a0001c0008t0001g0165 a0001c0011t0001g0014 a0001c0014t0007g0035 a0001c0016t0001g0042 a0002c0002t0001g0326 a0002c0002t0001g0327 a0003c0009t0001g0032 a0003c0009t0001g0048 a0004c0010t0001g0002 a0004c0010t0001g0003 a0005c0018t0004g0172 a0007c0017t0001g0154	84	356	0.2360	-297	c.29 others(11): Show c.2977_*3273del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding		2441		chr20	TogoVar
RAB11FIP3_chr16_420649_528011	493796	GGGGTTTC others(290): Show GGGGTTTCACCATGTCTCAATCTCCGGACCTCGTGATCCGCCCGCCTTGA CCCCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCACCCAGCCTGCCT GGAGGTATATTATCTTTTTCTTTTTTGAGACAGAGTCTCGATCTGTCACC CAGGCTGGAGTGCGGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCC CGGGTTCACTCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCATCACCACACCTGGCTAACTTTTGTATTTTTAGTAGACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02132.hp1 HG02895.hp1 others(12): Show HG01074.hp2 HG02132.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03239.hp2 HG03540.hp2 HG03831.hp2 HG04199.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0160 others(12): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0002g0086 a0001c0001t0010g0217 a0001c0001t0010g0222 a0001c0001t0012g0189 a0001c0001t0027g0163	15	295	0.0509	-297	c.126 others(19): Show c.1266-2981_1266-2685del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB6A_chr11_73670638_73766074	73683300	AGCTGGAG others(290): Show AGCTGGAGTGCAGTGGCACAATCATGGCTCCCTGAGGTCTCGACCTCATG GGCTCAAGTAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGG GGCATGCCACCACACCTGGCTAATTTTTGTATTTTTTTTGTAGAAAAGAG GTTTTGCCATGTTACCCAGGGTGGTCTCCAACTCCTGAGCTCAAGTGATC TGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGCACCACCGC ACCTGGTGGCACTATTTTTTTTAGATGCAGTCTCACTTTGTCACCTAG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	354	0.0028	-297	c.496 others(17): Show c.496-3877_496-3581del	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RABGEF1_chr7_66735733_66816464	66753895	TGGGGTTT others(290): Show TGGGGTTTTACTGTGTTGGCCAGGCTGTTCTTGAACTCCTGACCTTGTGA TCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAAC GTACTAGGCCATTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCTGTGGCGCAATCTTGGCTTACTGCAACGGCTGCTTCC TGGGTTCAAGCGATTCTCCTGCCTCACCTCCCGCGTAGCTGGGACTACAG GCGCCCTCCAACACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01257.hp2 others(25): Show HG00642.hp2 HG00735.hp1 HG01257.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02486.hp2 NA18612.hp2 NA18939.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp2 NA18963.hp1 NA18968.hp1 NA18980.hp2 NA18982.hp2 NA18994.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19081.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0337 a0001c0001t0004g0340 others(24): Show a0001c0001t0004g0018 a0001c0001t0004g0337 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0372 a0001c0001t0004g0373	28	400	0.0700	-297	c.-18 others(19): Show c.-18+13111_-18+13407del	RABGEF1	ENSG00000154710.18	transcript	ENST00000284957.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000440	GCAGAAGA others(290): Show GCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTC GTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGT GGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG04199.hp1 HG02148.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0088 a0001c0010t0113 a0001c0005t0088 a0001c0010t0113	a0001c0005t0088g0106 a0001c0010t0113g0062 a0001c0005t0088g0106 a0001c0010t0113g0062	2	218	0.0092	-297	c.120 others(19): Show c.1200+2311_1200+2607del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000800	AATCAGCC others(290): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19007.hp2 NA18999.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0061 a0001c0001t0008 a0001c0001t0061	a0001c0001t0008g0028 a0001c0001t0061g0150 a0001c0001t0008g0028 a0001c0001t0061g0150	2	218	0.0092	-297	c.120 others(19): Show c.1200+2504_1200+2800del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000965	ACCAGGCT others(290): Show ACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT CCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTT CCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCAC CAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTC CTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03942.hp1 HG03453.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0012 a0001c0009 a0002c0012	a0001c0009t0078 a0002c0012t0055 a0001c0009t0078 a0002c0012t0055	a0001c0009t0078g0085 a0002c0012t0055g0024 a0001c0009t0078g0085 a0002c0012t0055g0024	2	218	0.0092	-297	c.120 others(19): Show c.1200+2608_1200+2904del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000984	CGTGGAGG others(290): Show CGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGG ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTG GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGG TGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18970.hp2 NA19066.hp1 HG02056.hp2 NA18970.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0081 a0001c0001t0082 a0001c0002t0076 a0001c0001t0081 a0001c0001t0082 a0001c0002t0076	a0001c0001t0081g0145 a0001c0001t0082g0023 a0001c0002t0076g0088 a0001c0001t0081g0145 a0001c0001t0082g0023 a0001c0002t0076g0088	3	218	0.0138	-297	c.120 others(19): Show c.1200+2688_1200+2984del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001097	TATCAGCC others(290): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0058 a0001c0025t0058	a0001c0025t0058g0007 a0001c0025t0058g0007	1	218	0.0046	-297	c.120 others(19): Show c.1200+2757_1200+3053del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001195	GTATCAGC others(290): Show GTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAG GGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAG TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0070 a0001c0001t0025g0070	1	218	0.0046	-297	c.120 others(19): Show c.1200+2820_1200+3116del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24			chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001196	TATCAGCC others(290): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0106 a0001c0002t0106	a0001c0002t0106g0160 a0001c0002t0106g0160	1	218	0.0046	-297	c.120 others(19): Show c.1200+2886_1200+3182del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RIMBP2_chr12_130391133_130721299	130609382	CCTGACAC others(290): Show CCTGACACTGATGTTGGCAGGGCCTTGATTAACCCTCCTTGGTGATATGG TCAGAGGGACCCCGACCCCCAGAGGAGAACTGAGCCACCTGGGGGACCTT CTCTGGTGAGGTCGGGGGTCAGGAAATGTTGGGCCTGGGTCACTTTCTTC TGTTGGATGGAAGCGGGGTGGTTAGTCAGGGTTCCCTGGAGAAACAGGAC AGGATAGATACACATGAAGATACTTATTTGGGGAGTTTCCTCGTGTGATT ACAGAGGCCAATAAGTCCCATGATCTGCCGTCTGGAGAGCCAGGAATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 NA21309.hp2 HG00099.hp1 HG01891.hp2 NA21309.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0001c0048 a0016c0031 a0001c0002 a0001c0048 a0016c0031	a0001c0002t0001 a0001c0048t0001 a0016c0031t0002 a0001c0002t0001 a0001c0048t0001 a0016c0031t0002	a0001c0002t0001g0168 a0001c0048t0001g0011 a0016c0031t0002g0097 a0001c0002t0001g0168 a0001c0048t0001g0011 a0016c0031t0002g0097	3	180	0.0167	-297	c.-21 others(21): Show c.-217+18643_-217+18939del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RLF_chr1_40156387_40245921	40228218	AGAGGTTG others(290): Show AGAGGTTGCAGTGAGCCGAGATCATGCCACTGCATTCGAGCCTGGGCAAC AGAACAAGACTCCATCTCAAAAAAAAAAAAGCCAGGCGTGGTGGCTCATG CATGTAATGTAATCCCAGCACTTTGGGAGGGCAAGGTGGGCGGATCACCT AAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCGAAACCCCGTCTC TAAAAATACGAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAG CTACTCGAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19003.hp1 NA19068.hp2 NA18949.hp2 NA19003.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0165	3	338	0.0089	-297	c.948 others(17): Show c.948-3282_948-2986del	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RRP12_chr10_97351701_97406340	97398056	TTTTTTTT others(290): Show TTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0314 a0003c0024t0001g0314	1	400	0.0025	-297	c.369 others(17): Show c.369+1952_370-1756del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCN11A_chr3_38840764_39056944	38877023	ATATATAT others(290): Show ATATATATGGTATATATATGGTGTATATACTATATATATGGTATATATAT GGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATATA TGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATAT ATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTA TATACTATATATATGGTATATATATGGTGTATATACTATATATATGGTAT ATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	314	0.0032	-297	c.339 others(19): Show c.3393+2630_3393+2926del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SGSM2_chr17_2332501_2386054	2356679	GGGGGAAG others(290): Show GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTG GGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTGG GGAAGGGATCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GGAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(11): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG01346.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 NA18946.hp1 NA18951.hp2 NA19009.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0001c0032 a0004c0010 others(1): Show a0001c0001 a0001c0032 a0004c0010 a0013c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0032t0001 a0004c0010t0001 a0013c0030t0024	a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0183 others(11): Show a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0229 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0002g0238 a0001c0001t0003g0204 a0001c0001t0007g0164 a0001c0001t0011g0116 a0001c0032t0001g0188 a0004c0010t0001g0117 a0013c0030t0024g0149	14	422	0.0332	-297	c.134 others(17): Show c.134-4954_134-4658del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A8_chr3_125077644_125217748	125217451	TCTGGATT others(290): Show TCTGGATTTTTATTTATTTATTTTTTCTTGCAACAAGCATACGTTACTTT GGAATCTGGAAGGGGTGGGGTGGGAGATGAATAAGAAAATTAAAAAACAA ACAATGTGGGGTAGATTGTATTTCCCATATGCTCTTCCTACAATATGATG TTGGGATTCCTTCAAAAGGAGTTAGGGTCTATGTTACCTCCCACTGAGCC TGAGTGGACCTTTTTAAGTGCCCCAGCCAACAGGAGAAATGGCAGAAATG ACACTACATGACTTTGTGGGCTAGGTCCTAAAGGCAATACGGAGCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00558.hp2 others(118): Show HG00099.hp1 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0016	a0001c0001 a0001c0008 a0002c0002 others(11): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0004c0011 a0005c0013 a0006c0006 a0007c0009 a0008c0010 a0010c0012 a0013c0024 a0014c0026 a0016c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0008t0004 a0002c0002t0001 a0002c0002t0009 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0019 a0004c0004t0001 a0004c0011t0025 a0005c0013t0001 a0006c0006t0002 a0006c0006t0004 a0007c0009t0003 a0008c0010t0003 a0010c0012t0009 a0013c0024t0009 a0014c0026t0001 a0016c0020t0003	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 others(117): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0003g0124 a0001c0001t0003g0160 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0236 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0279 a0001c0001t0003g0304 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0131 a0001c0001t0004g0302 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0005g0162 a0001c0001t0005g0179 a0001c0001t0005g0267 a0001c0001t0008g0122 a0001c0001t0008g0125 a0001c0001t0008g0330 a0001c0001t0008g0331 a0001c0001t0010g0360 a0001c0001t0011g0013 a0001c0001t0011g0017 a0001c0001t0016g0349 a0001c0001t0020g0088 a0001c0008t0004g0314 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0107 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0256 a0002c0002t0001g0268 a0002c0002t0001g0278 a0002c0002t0001g0285 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0332 a0002c0002t0009g0221 a0002c0002t0009g0326 a0003c0003t0002g0250 a0003c0003t0002g0255 a0003c0003t0003g0246 a0003c0003t0003g0289 a0003c0003t0003g0342 a0003c0003t0004g0245 a0003c0003t0019g0200 a0004c0004t0001g0014 a0004c0004t0001g0016 a0004c0004t0001g0112 a0004c0004t0001g0142 a0004c0004t0001g0150 a0004c0011t0025g0110 a0005c0013t0001g0134 a0006c0006t0002g0127 a0006c0006t0004g0001 a0006c0006t0004g0114 a0007c0009t0003g0111 a0008c0010t0003g0249 a0010c0012t0009g0253 a0010c0012t0009g0254 a0013c0024t0009g0329 a0014c0026t0001g0313 a0016c0020t0003g0323	121	362	0.3343	-297	c.-50 others(11): Show c.-5094_-4798del	SLC12A8	ENSG00000221955.11	transcript	ENST00000469902.6	protein_coding		4704		chr3	TogoVar
SLC6A18_chr5_1220381_1251189	1238307	ACTCAGGA others(290): Show ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	456	0.0022	-297	c.732 others(15): Show c.732+259_732+555del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMED4_chr7_44572894_44587231	44584008	TAAAAATA others(290): Show TAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCTCAG CTACTTGGGAGGCTGAGGCAGGAGAATTGCTAGAATCAGGGAGGTGGAGG TTGCAGTGGGCTGAGATGATGCCACTGTACTCCAGCCTAGGCAACAGAGT GAGATTCTATCTCAAAACAAACAAAAACAGGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTC AGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTACCTCTACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	402	0.0025	-297	c.-20 others(11): Show c.-2099_-1803del	TMED4	ENSG00000158604.15	transcript	ENST00000457408.7	protein_coding		1778		chr7	TogoVar
VCX2_chrX_8164944_8176267	8169598	TCCCTCCC others(290): Show TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCACCACACACCACCTCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	115	0.0087	-297	c.13 others(9): Show c.137_*433del	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		345		chrX	TogoVar
YBEY_chr21_46281342_46302751	46293026	TCCCGCGG others(290): Show TCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	404	0.0025	-297	c.339 others(17): Show c.339+1567_339+1863del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZAP70_chr2_97708576_97744860	97721997	ATGGTCTC others(290): Show ATGGTCTCGAATGCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCACGCTCGGCCTATTTTATCTTTTT AAAGACAGAGTTTCGCGCTTGTTGCCCAGGCTGGAGTGCAGTGGCCTGAT CTCGGCTCAATGGAATCTCCGCCTCTTGGGTTCACGAGGTTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACCTCTGGCTA ATTTTTTGTATTTATGGTGGAGACGGGGTTTCACCATGTTAGCCAGGC	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	368	0.0027	-297	c.-21 others(17): Show c.-21-2008_-21-1712del	ZAP70	ENSG00000115085.15	transcript	ENST00000264972.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF469_chr16_88377959_88445753	88396574	GACCCTCC others(290): Show GACCCTCCTGAAGGGAGGCCGGGCGGAGACCCATCTGAAGGGAGGCCGGG AGGAGACCCTCCTGAAGGGAGGCCGGGCGGAGACCCTCCTGAAGGGAGGC CGGGAGGAGACCCGTCTGAAGGGAGGCCAGATGGAAACCCTCCTGAAGGG AGGCCGGGAGGAGACCCTCATAAAGGGAGGCCAGGAGGAGACCCTCGTGA AGGGAGGCCGGGAGGAGACCCTTGAGAAGGGAGGCCAGGCAGAGACCTGT CTGAAGGGAAGCCTGGAGGAGACCCTCCTGAAGGGAGGCCGGGAGGAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0131 a0131	a0131c0183 a0131c0183	a0131c0183t0012 a0131c0183t0012	a0131c0183t0012g0195 a0131c0183t0012g0195	1	354	0.0028	-297	c.-19 others(21): Show c.-192+13343_-192+13639del	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288273	TCCCCCGA others(289): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01261.hp1 HG01106.hp2 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0005 a0001c0001t0001 a0002c0006t0005	a0001c0001t0001g0204 a0002c0006t0005g0099 a0001c0001t0001g0204 a0002c0006t0005g0099	2	295	0.0068	-296	c.49 others(11): Show c.4995_*5290del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4117		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289431	TCCCCCGT others(289): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	295	0.0034	-296	c.38 others(11): Show c.3837_*4132del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2959		chr1	TogoVar
AHRR_chr5_316714_443285	352403	CTGAGGTT others(289): Show CTGAGGTTAAATGGGTCAGCTGTAGGGGATGGTCACTGTGAGGTTAAATG GGTCAGCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCAGCTGTAGG GGATGGTCACTGTGAGGTTAAATGGGTCAGCTGTAGGGGATGGTCACTCT GAGGTTAAATAGGTCAGCTGTAGGGGATGGTCACTCTGAGTTTAAATGGG TCAGCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCAGCTGTAGGGG ACGGTCACTGTGAGGTTAAATGGGTCAGCTGTAGGGGATGGTCACTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01175.hp1 others(2): Show HG00738.hp2 HG01109.hp1 HG01175.hp1 HG01358.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0006 a0002c0002t0019 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0019 a0003c0004t0004	a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0019g0007 others(2): Show a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0019g0007 a0003c0004t0004g0003 a0003c0004t0004g0005	5	268	0.0187	-296	c.63- others(14): Show c.63-1253_63-958del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO2_chr12_5557655_5950259	5928817	ATCTTCTT others(289): Show ATCTTCTTTCCTTACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTA CCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTT ATTTCCTCATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTAT CTTCTTTCCTCACTCGTCTACCTTCTTTCCTCATTAGTCACTTTCTTACC AGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTTCT TTCCTCATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02273.hp1 others(10): Show HG02055.hp1 HG02055.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG03704.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0016 a0002c0003 others(4): Show a0001c0001 a0001c0016 a0002c0003 a0002c0006 a0003c0004 a0003c0011 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0002c0003t0002 a0002c0006t0002 a0003c0004t0002 a0003c0011t0001 a0011c0021t0002	a0001c0001t0001g0069 a0001c0001t0002g0152 a0001c0001t0002g0159 others(10): Show a0001c0001t0001g0069 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0016t0002g0157 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0006t0002g0154 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0011t0001g0072 a0011c0021t0002g0153	13	162	0.0803	-296	c.23- others(15): Show c.23-6309_23-6014del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARFGEF2_chr20_48916711_49041693	48928457	CAAAGTGC others(289): Show CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAATCTTT TTTTTTTTGAGCCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG TGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACCACACCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTTTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp1 NA18939.hp1 others(2): Show HG02071.hp1 HG02293.hp1 NA18939.hp1 NA18986.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0240 a0001c0001t0003g0238 a0001c0001t0003g0239 others(2): Show a0001c0001t0002g0240 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0246 a0001c0001t0003g0247	5	352	0.0142	-296	c.121 others(17): Show c.121+6477_121+6772del	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARHGAP24_chr4_85470150_86007666	85875058	TTTGTTTT others(289): Show TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT ATATATTATATTATATATAATATATTTATCTTATATATTATATTATATAT AATATATTTATCTTATATATTATATTATATATAATATATTTATCTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01433.hp1 others(25): Show HG00639.hp1 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18968.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0001c0002t0013 a0001c0003t0001 a0001c0003t0009 a0001c0004t0004 a0001c0005t0003 a0001c0005t0004 a0001c0005t0019 a0001c0008t0017 a0002c0006t0018	a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0065 others(25): Show a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0005g0036 a0001c0001t0005g0074 a0001c0001t0005g0101 a0001c0001t0021g0054 a0001c0002t0013g0029 a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0051 a0001c0003t0001g0091 a0001c0003t0009g0047 a0001c0004t0004g0033 a0001c0004t0004g0035 a0001c0005t0003g0085 a0001c0005t0003g0094 a0001c0005t0004g0034 a0001c0005t0004g0038 a0001c0005t0019g0070 a0001c0008t0017g0057 a0002c0006t0018g0040	28	108	0.2593	-296	c.269 others(19): Show c.269-48588_269-48293del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85875089	ATTTATCT others(289): Show ATTTATCTTATATATTATATTATATATAATATATTTATCTTATATATTAT ATTATATATAATATATTTATCTTATATATTATATTATATATAATATATTT ATCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTA TATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCT TATATATTATATTATATATAATATATTTATCTTATATATTATATTATATA TAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00639.hp2 others(19): Show HG00323.hp1 HG00423.hp1 HG00639.hp2 HG01069.hp1 HG01346.hp1 HG01516.hp2 HG02055.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG03654.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18968.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0014	a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 others(7): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0003t0011 a0001c0004t0003 a0002c0006t0006 a0003c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0015g0049 a0001c0001t0020g0002 a0001c0002t0002g0011 a0001c0003t0001g0015 a0001c0003t0005g0059 a0001c0003t0011g0087 a0001c0004t0003g0050 a0001c0004t0003g0089 a0002c0006t0006g0095 a0003c0014t0001g0017	22	108	0.2037	-296	c.269 others(19): Show c.269-48558_269-48263del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9			chr4	TogoVar
ATP5ME_chr4_667436_679276	668636	GCTACCCC others(289): Show GCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT ATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGC CATGCTATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCAC TACCCCACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTAT TCCCCTACCCCATGCTATTCCCGCTATGCCATGCTATTCCCGCTACCCCA TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02970.hp2 HG03486.hp2 others(1): Show HG01975.hp2 HG02970.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	4	394	0.0102	-296	c.35 others(11): Show c.3568_*3863del	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3799		chr4	TogoVar
BTBD2_chr19_1980448_2020714	2012096	CGCCCGCC others(289): Show CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCAGCCTGTCCTTTATTTTTTTTGAGATGGTGTGTCACTGTGTCGCCT GGGCTGGAGTGCAATGGCGCAATCTCGGTTCCCTGCAACCTCCACCTCCT GGGTTCACGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTGTAGAGACAGGGT TTCACCGTGTTGACCAGGCTGGTCTCGATCTCCCGACCTCGTGATCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG06807.hp1 HG02258.hp1 HG02922.hp2 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0001 a0005c0010t0001 a0002c0002t0001 a0005c0010t0001	a0002c0002t0001g0113 a0005c0010t0001g0119 a0005c0010t0001g0120 a0002c0002t0001g0113 a0005c0010t0001g0119 a0005c0010t0001g0120	3	364	0.0082	-296	c.407 others(17): Show c.407+2905_407+3200del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(289): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0222 a0002c0001t0001g0222	1	248	0.0040	-296	c.226 others(19): Show c.2267+4773_2268-4708del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(289): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(7): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01255.hp2 HG03041.hp1 HG03688.hp2 NA18950.hp2 NA18954.hp1 NA18995.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0002c0004 a0002c0008 others(1): Show a0002c0001 a0002c0004 a0002c0008 a0003c0006	a0002c0001t0001 a0002c0001t0002 a0002c0004t0031 others(3): Show a0002c0001t0001 a0002c0001t0002 a0002c0004t0031 a0002c0008t0003 a0003c0006t0001 a0003c0006t0002	a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0214 others(7): Show a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0214 a0002c0001t0002g0167 a0002c0004t0031g0247 a0002c0008t0003g0197 a0002c0008t0003g0198 a0002c0008t0003g0199 a0003c0006t0001g0150 a0003c0006t0002g0151	10	248	0.0403	-296	c.226 others(19): Show c.2268-3701_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG7_chr19_53904278_53948950	53922770	TCCCAGGC others(289): Show TCCCAGGCTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATT GGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGT CATTGGTGGAGTTGTCCCAGGACTGGTCATTGGTGCAGTTGCCCCAGGCC TGGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTTGTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	364	0.0028	-296	c.424 others(17): Show c.424+7273_424+7568del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPN15_chr16_522712_559636	550761	TCCCCTGC others(289): Show TCCCCTGCCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTC CCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCC CGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCC CGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCC CTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG00735.hp1 HG01167.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0015 a0001c0004 a0005c0015	a0001c0004t0001 a0005c0015t0001 a0001c0004t0001 a0005c0015t0001	a0001c0004t0001g0018 a0005c0015t0001g0019 a0001c0004t0001g0018 a0005c0015t0001g0019	2	410	0.0049	-296	c.206 others(17): Show c.2067-537_2067-242del	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	421529	AACACACA others(289): Show AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0278 a0003c0003t0002g0278	1	432	0.0023	-296	c.413 others(17): Show c.413+2910_413+3205del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)