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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUC5AC_chr11_1152953_1206138	1154549	CACCCACT others(293): Show CACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCA CTTATTCACCCATTCACTCATTCATTCACCCATTCACTCACTCACTTATT CACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCA CTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATT CACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGA CTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATT T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG02109.hp2 HG02165.hp1 HG02451.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 NA18960.hp2 NA18977.hp2 NA18998.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(14): Show a0001 a0004 a0007 a0009 a0010 a0012 a0016 a0017 a0025 a0027 a0028 a0029 a0031 a0032 a0055 a0062 a0064	a0001c0001 a0001c0028 a0001c0053 others(19): Show a0001c0001 a0001c0028 a0001c0053 a0001c0059 a0004c0003 a0004c0024 a0007c0010 a0009c0020 a0010c0019 a0012c0017 a0016c0029 a0017c0040 a0017c0041 a0025c0033 a0027c0039 a0028c0082 a0029c0081 a0031c0079 a0032c0042 a0055c0076 a0062c0062 a0064c0054	a0001c0001t0001 a0001c0028t0001 a0001c0053t0001 others(19): Show a0001c0001t0001 a0001c0028t0001 a0001c0053t0001 a0001c0059t0001 a0004c0003t0001 a0004c0024t0001 a0007c0010t0001 a0009c0020t0002 a0010c0019t0002 a0012c0017t0001 a0016c0029t0002 a0017c0040t0003 a0017c0041t0002 a0025c0033t0001 a0027c0039t0002 a0028c0082t0003 a0029c0081t0002 a0031c0079t0002 a0032c0042t0001 a0055c0076t0001 a0062c0062t0001 a0064c0054t0001	a0001c0001t0001g0016 a0001c0001t0001g0170 a0001c0001t0001g0179 others(27): Show a0001c0001t0001g0016 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0028t0001g0215 a0001c0053t0001g0031 a0001c0059t0001g0209 a0004c0003t0001g0214 a0004c0024t0001g0001 a0007c0010t0001g0030 a0007c0010t0001g0192 a0007c0010t0001g0193 a0007c0010t0001g0218 a0009c0020t0002g0008 a0010c0019t0002g0007 a0012c0017t0001g0165 a0016c0029t0002g0017 a0016c0029t0002g0046 a0017c0040t0003g0228 a0017c0041t0002g0226 a0025c0033t0001g0036 a0027c0039t0002g0047 a0028c0082t0003g0045 a0029c0081t0002g0044 a0031c0079t0002g0017 a0032c0042t0001g0227 a0055c0076t0001g0048 a0062c0062t0001g0157 a0064c0054t0001g0197	33	292	0.1130	-300	c.-34 others(11): Show c.-3450_-3151del		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding					3403		chr11	TogoVar
MYT1_chr20_64159452_64247253	64174445	GTAGTTGT others(293): Show GTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC C	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0008 a0001c0015t0002 a0001c0001t0008 a0001c0015t0002	a0001c0001t0008g0133 a0001c0015t0002g0096 a0001c0001t0008g0133 a0001c0015t0002g0096	2	223	0.0090	-300	c.-99 others(18): Show c.-99+9721_-99+10020del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688103	TATATATG others(293): Show TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATAATATAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01168.hp2 others(19): Show HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02300.hp1 HG02698.hp1 HG03579.hp2 NA18612.hp1 NA18957.hp2 NA18974.hp1 NA19009.hp2 NA19057.hp2 NA19068.hp1 NA19079.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0004t0001 a0005c0010t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 others(19): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0002g0324 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0003t0002g0019 a0001c0003t0002g0048 a0001c0003t0002g0076 a0001c0003t0003g0149 a0001c0003t0003g0152 a0002c0002t0002g0098 a0002c0004t0001g0164 a0002c0004t0001g0223 a0005c0010t0001g0159	22	352	0.0625	-300	c.36 others(11): Show c.3606_*3905del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2740		chr15	TogoVar
NEU4_chr2_241804193_241822413	241805503	GACCTCCG others(293): Show GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	319	0.0031	-300	c.-37 others(11): Show c.-3774_-3475del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3689		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806652	CCCCTCAG others(293): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	319	0.0031	-300	c.-26 others(11): Show c.-2625_-2326del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2540		chr2	TogoVar
NLRP4_chr19_55831540_55886855	55850972	TGGCTGCG others(293): Show TGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACG A	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0398 a0002c0003t0008g0398	1	424	0.0024	-300	c.-65 others(16): Show c.-65-1029_-65-730del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NRIP1_chr21_14956235_15070000	15031221	GTATACAC others(293): Show GTATACACTCTGGAAGGTGGTTGGAGGTTCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTGTGT GTATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGT GTGTACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGT A	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0154 a0001c0004t0011g0154	1	398	0.0025	-300	c.-45 others(21): Show c.-458+11974_-458+12273del		NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3						chr21	TogoVar
NRTN_chr19_5800067_5833324	5820054	CAGGAGAT others(293): Show CAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGC TACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGGT TGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAATTGCCGGGCACGGTGGCTCA CGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGTGGGTATATCACAAGGT G	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02145.hp2 others(9): Show HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03540.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0001 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0001t0001g0356 a0001c0001t0007g0292 a0001c0001t0013g0314	12	402	0.0299	-300	c.-39 others(19): Show c.-398-3705_-398-3406del		NRTN	ENSG00000171119.3	transcript	ENST00000303212.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
ODF3L2_chr19_458361_479983	471468	GGTCTCAC others(293): Show GGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCA CTGCAGCCCCGACCTCCTGGGTTCAAGTGATCCTCCTGCCTGGGCCTCCC CAGCAGCTGGGACCACAGGCACACACTACCACACCCAGCTTTTCGGCTAC TTTTAAAAGCATTTAATCCTCACTTAATGAATCTCAAAAAGGCATCTAAT CCTTACAACAGGCCTGTATGGAGTCTGTTATTATTTTTAATATAATGTTA ATGTTTTTGTTACTATTGTTAACTTTTTTTTTTTTTCTTTTTAGAGACAG A	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18940.hp1 NA18952.hp2 others(2): Show HG01993.hp2 NA18940.hp1 NA18952.hp2 NA19009.hp1 NA19070.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0001 a0001c0001t0001 a0011c0021t0001	a0001c0001t0001g0008 a0011c0021t0001g0050 a0001c0001t0001g0008 a0011c0021t0001g0050	5	324	0.0154	-300	c.235 others(15): Show c.235+626_235+925del		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	2/3						chr19	TogoVar
OR2V2_chr5_181142586_181164285	181160688	TGCATCGT others(293): Show TGCATCGTCATTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGG GGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCA CTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCGTTGGGGGTGG GGCCAGGACGAGCATCGTCGTTGGGGGTGGGGCCAGGACGAGCATCGTCG TTGGGGGTGGGGCCAGGACGAGCATCGTCGTTGGGGGTGGGGCCAGGACG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0103 a0001c0001t0033g0103	1	424	0.0024	-300	c.47 others(11): Show c.4799_*5098del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1404		chr5	TogoVar
PDCD1_chr2_241844884_241863894	241847984	ATGAGAGC others(293): Show ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGA ATGAGAGACGTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGACAATGGATGA ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(74): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp1 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0009g0039 a0001c0001t0009g0107 a0001c0001t0009g0108 a0001c0001t0017g0084 a0001c0004t0001g0048 a0001c0004t0001g0052 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0005t0010g0038 a0001c0005t0010g0099 a0001c0005t0010g0100 a0001c0006t0001g0094	77	407	0.1892	-300	c.27 others(11): Show c.2774_*3073del		PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding					1899		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848293	TTGAGTTC others(293): Show TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	407	0.0025	-300	c.24 others(11): Show c.2465_*2764del		PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding					1590		chr2	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(293): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01074.hp1 others(39): Show HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01358.hp1 HG01515.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0037 a0001c0001t0042 a0001c0001t0065 a0001c0002t0015 a0001c0002t0021 a0001c0002t0047 a0001c0003t0002 a0001c0003t0005 a0001c0003t0019 a0001c0006t0001 a0001c0006t0002 a0003c0008t0054 a0005c0012t0010	a0001c0001t0001g0104 a0001c0001t0001g0188 a0001c0001t0001g0277 others(38): Show a0001c0001t0001g0104 a0001c0001t0001g0188 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0369 a0001c0001t0002g0107 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0300 a0001c0001t0002g0307 a0001c0001t0003g0367 a0001c0001t0004g0286 a0001c0001t0006g0178 a0001c0001t0008g0353 a0001c0001t0009g0296 a0001c0001t0010g0201 a0001c0001t0011g0010 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0017g0103 a0001c0001t0018g0317 a0001c0001t0020g0283 a0001c0001t0022g0258 a0001c0001t0037g0200 a0001c0001t0042g0273 a0001c0001t0042g0274 a0001c0001t0065g0267 a0001c0002t0015g0230 a0001c0002t0021g0199 a0001c0002t0047g0032 a0001c0003t0002g0288 a0001c0003t0005g0284 a0001c0003t0019g0280 a0001c0003t0019g0292 a0001c0006t0001g0302 a0001c0006t0002g0303 a0003c0008t0054g0308 a0005c0012t0010g0198	42	432	0.0972	-300	c.77- others(15): Show c.77-3013_77-2714del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210610	ATGTTAGC others(293): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp2 others(17): Show HG00597.hp1 HG00639.hp2 HG00673.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG02055.hp1 HG02080.hp1 HG02165.hp1 HG02647.hp2 HG02970.hp1 HG03491.hp1 HG03710.hp2 HG04184.hp2 NA18969.hp1 NA18974.hp1 NA18995.hp1 NA19060.hp2 NA19082.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0075 a0001c0002t0010 a0001c0003t0001 a0001c0003t0070	a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0226 others(17): Show a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0226 a0001c0001t0001g0261 a0001c0001t0001g0325 a0001c0001t0002g0202 a0001c0001t0002g0248 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0003g0332 a0001c0001t0004g0080 a0001c0001t0004g0264 a0001c0001t0009g0257 a0001c0001t0010g0047 a0001c0001t0011g0373 a0001c0001t0075g0377 a0001c0002t0010g0048 a0001c0003t0001g0352 a0001c0003t0001g0414 a0001c0003t0070g0279	20	432	0.0463	-300	c.77- others(15): Show c.77-2990_77-2691del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0042 a0002c0005t0042	a0002c0005t0042g0186 a0002c0005t0042g0186	1	332	0.0030	-300	c.112 others(17): Show c.1128-855_1128-556del		PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17						chr19	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(293): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA C	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0104 a0001c0001t0068g0104	1	254	0.0039	-300	c.292 others(19): Show c.292-24932_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX3_chr17_79084345_79616051	79512191	GATATAGC others(293): Show GATATAGCCCCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG GGTACAGCCCCATGGCCAGGGAACACCCACCCGGATACGTGTTACCATCG GATACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCG GGTACAGCCCCATAGCCAGGGGACGCACACCTGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG A	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	154	0.0065	-300	c.-31 others(21): Show c.-319-29893_-319-29594del		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512223	GGATACAT others(293): Show GGATACATGTTACCATCGAGTACAGTCCTATAGCCAGGGGATATACACCC GGATACATATTACCATCGGGTACAGCCCCATGGCCAGGGAACACCCACCC GGATACGTGTTACCATCGGATACAGCCCCATGGCCAGGGGACACCCACCC GGATACATGTTACCATCGGGTACAGCCCCATAGCCAGGGGACGCACACCT GGATACATGTTACCATCGAGTACAGTCCTATAGCCAGGGGATATACACCC GGATACATATTACCATCGAGTACAGCCCCATGGCCAGGGGACACCCACCC A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	154	0.0065	-300	c.-31 others(21): Show c.-319-29925_-319-29626del		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RNF223_chr1_1065967_1079306	1077061	GGGGAGGC others(293): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTG AGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGC GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03209.hp1 NA19240.hp1 HG02145.hp2 HG03209.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0015 a0002c0003t0009g0015	3	324	0.0093	-300	c.-33 others(11): Show c.-3355_-3056del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2756		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078681	CGGGAGGC others(293): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02976.hp2 others(1): Show HG02055.hp2 HG02451.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0042	4	324	0.0124	-300	c.-49 others(11): Show c.-4975_-4676del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4376		chr1	TogoVar
ROBO1_chr3_78592239_79772998	78730268	ACCAAATG others(293): Show ACCAAATGCTTGCTAAGATAAAGCCTTTTCCAGAGACCACGTATAACTTG TTACCCTTGAAATTTACATTGACTTACATTCTGTAGAAGACTCATAACCA TGGCAAAGTCAAATCAAGGTTGGGTATGCAAGGGATTCCTTGATATAGAT TGACCAATTTTACTTTACAGAAATGCATTTTTTATTCAAAAATATAAACA GCATTTAATATTACTAATTAAGATTCTACAGAAGAAGAAATATTCCTAAA ATAGCTACAAATTGAAGTAAACACTCACACACATTCTGTGGTATTTTAAT C	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	1	44	0.0227	-300	c.658 others(19): Show c.658-12685_658-12386del		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	5/30						chr3	TogoVar
RPH3AL_chr17_207389_357807	288511	TCTCTCTC others(293): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC C	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	-300	c.352 others(17): Show c.352-6957_352-6658del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RRP12_chr10_97351701_97406340	97398053	TTTTTTTT others(293): Show TTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18612.hp1 NA18941.hp1 others(1): Show HG02738.hp2 NA18612.hp1 NA18941.hp1 NA19083.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0276 a0003c0002t0001g0278 a0003c0002t0001g0279 others(1): Show a0003c0002t0001g0276 a0003c0002t0001g0278 a0003c0002t0001g0279 a0003c0002t0001g0309	4	400	0.0100	-300	c.369 others(17): Show c.369+1952_370-1753del		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
SKI_chr1_2223319_2315213	2281426	GGATGCCC others(293): Show GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG A	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	330	0.0030	-300	c.970 others(19): Show c.970-21550_970-21251del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A13_chr12_215622_267836	259019	TTTATTAC others(293): Show TTTATTACTTAAGACCACAGAACAGTTTGGTTATCAACGTCATCATCAGC AGAGCTACTATTTATTACTTAAGACCACAGAACAGTTTGGTTATCAACGT CATCATCAGCAGAGCTACTATTTATTACTTAAGACCACAGAACAGTTTGG TTATCAACATCATCATCAGCAGAGCTACTATTTATTACTTAAGACCACAG AACAGTTTGGTTATCAACGTCATCATCAGCAGAGCTACTACTTATTACTT AAGACCACAGAACAGTTTGGTTATCAACGTCATCATCAACAGAGCTACTA C	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	442	0.0023	-300	c.202 others(15): Show c.202+532_202+831del		SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14						chr12	TogoVar
SMIM14_chr4_39541336_39643865	39619228	ATATATCA others(293): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTA TTCTATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATT TATTCTATATATCAATAAATATAATTTATTCTATATCAATAAATATAATT TATTCTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTA TTCTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATT C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp2 others(48): Show HG00099.hp1 HG00423.hp1 HG00639.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01993.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18946.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0046	a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0160 others(48): Show a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0220 a0001c0001t0005g0139 a0001c0001t0005g0141 a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0204 a0001c0001t0005g0211 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0005g0226 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0007g0190 a0001c0001t0011g0210 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0230 a0001c0001t0032g0231 a0001c0001t0033g0344 a0001c0001t0034g0218 a0001c0001t0046g0186	51	344	0.1483	-300	c.-35 others(19): Show c.-35-14348_-35-14049del		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4						chr4	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(293): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03579.hp2 HG00673.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0116 a0001c0001t0002g0066 a0001c0001t0002g0116	2	302	0.0066	-300	c.551 others(14): Show c.551-344_551-45del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337961	GGACCTGA others(293): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02132.hp1 HG02165.hp2 others(1): Show HG00099.hp2 HG02132.hp1 HG02165.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0135 a0001c0001t0002g0063 a0001c0001t0003g0299 others(1): Show a0001c0001t0001g0135 a0001c0001t0002g0063 a0001c0001t0003g0299 a0001c0001t0005g0031	4	302	0.0133	-300	c.551 others(15): Show c.551-404_551-105del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338001	TGACCTGA others(293): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	302	0.0033	-300	c.550 others(15): Show c.550+430_551-145del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338081	GGACCTGA others(293): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19087.hp1 HG02258.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0110 a0001c0001t0002g0070 a0001c0001t0002g0110	2	302	0.0066	-300	c.550 others(15): Show c.550+350_551-225del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338181	TGACCTGA others(293): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	302	0.0033	-300	c.550 others(15): Show c.550+250_551-325del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338221	GGACCTGA others(293): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp1 HG01934.hp2 others(12): Show HG00280.hp2 HG01255.hp1 HG01934.hp2 HG02523.hp1 HG02723.hp2 HG03139.hp2 HG03540.hp2 HG03927.hp2 NA18952.hp2 NA18989.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp2 NA19062.hp2 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0201 others(12): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0201 a0001c0001t0001g0226 a0001c0001t0001g0302 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0005g0180 a0001c0001t0006g0167 a0001c0001t0007g0211 a0001c0001t0008g0141 a0001c0001t0020g0266 a0002c0002t0001g0196 a0002c0002t0001g0213 a0003c0005t0001g0186	15	302	0.0497	-300	c.550 others(15): Show c.550+210_551-365del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
THBS3_chr1_155190588_155212897	155191160	GGGGGGGC others(293): Show GGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGG GTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCG GTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGAC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01934.hp1 others(4): Show HG00438.hp1 HG01175.hp1 HG01934.hp1 HG02074.hp1 HG02630.hp1 HG03942.hp2 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0023 a0008c0011t0001g0056	7	298	0.0235	-300	c.43 others(11): Show c.4381_*4680del		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4427		chr1	TogoVar
THSD4_chr15_71110471_71788383	71199520	TGTGTGGG others(293): Show TGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGTGTGTG TGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGTGTGTG GGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGATGCATGTG TGGAGGGTGTGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTG TGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTG TGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCA C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG01243.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0007 a0001c0003t0003 a0001c0007t0007	a0001c0003t0003g0071 a0001c0007t0007g0070 a0001c0003t0003g0071 a0001c0007t0007g0070	2	116	0.0172	-300	c.100 others(19): Show c.100-15500_100-15201del		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TPO_chr2_1408463_1548673	1489924	GCACACAG others(293): Show GCACACAGGAGGAGTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTC CCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTC CCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACGAGGGTC CCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTC CCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTC CCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTC C	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0011 a0003c0006t0011	a0003c0006t0011g0085 a0003c0006t0011g0085	1	130	0.0077	-300	c.176 others(19): Show c.1768+1942_1768+2241del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1489933	AGGAGTCA others(293): Show AGGAGTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG G	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0066 a0003c0003t0005g0066	1	130	0.0077	-300	c.176 others(19): Show c.1768+1955_1768+2254del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
UMODL1_chr21_42066317_42147996	42078196	CGGGGCCA others(293): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG01993.hp2 others(4): Show HG01192.hp2 HG01496.hp1 HG01993.hp2 HG03486.hp1 NA19066.hp2 NA19081.hp1 NA20129.hp1	a0001 a0002 a0026 others(4): Show a0001 a0002 a0026 a0070 a0088 a0119 a0124	a0001c0020 a0002c0023 a0026c0044 others(4): Show a0001c0020 a0002c0023 a0026c0044 a0070c0077 a0088c0112 a0119c0150 a0124c0145	a0001c0020t0001 a0002c0023t0005 a0026c0044t0012 others(4): Show a0001c0020t0001 a0002c0023t0005 a0026c0044t0012 a0070c0077t0002 a0088c0112t0003 a0119c0150t0001 a0124c0145t0001	a0001c0020t0001g0052 a0002c0023t0005g0108 a0026c0044t0012g0021 others(4): Show a0001c0020t0001g0052 a0002c0023t0005g0108 a0026c0044t0012g0021 a0070c0077t0002g0034 a0088c0112t0003g0238 a0119c0150t0001g0281 a0124c0145t0001g0069	7	400	0.0175	-300	c.319 others(17): Show c.319+1988_319+2287del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078235	TAGAAACC others(293): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00639.hp1 others(42): Show HG00140.hp1 HG00438.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01081.hp2 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG03486.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19091.hp1 NA20300.hp2	a0001 a0003 a0005 others(24): Show a0001 a0003 a0005 a0006 a0008 a0010 a0011 a0012 a0015 a0021 a0022 a0027 a0029 a0033 a0036 a0038 a0056 a0063 a0065 a0066 a0067 a0068 a0071 a0074 a0075 a0098 a0112	a0001c0001 a0001c0008 a0001c0140 others(30): Show a0001c0001 a0001c0008 a0001c0140 a0001c0141 a0003c0003 a0005c0002 a0006c0007 a0006c0038 a0006c0078 a0008c0026 a0010c0142 a0011c0063 a0012c0054 a0015c0010 a0021c0040 a0022c0039 a0022c0080 a0027c0135 a0029c0024 a0033c0103 a0036c0123 a0038c0065 a0056c0205 a0063c0067 a0065c0083 a0066c0084 a0067c0085 a0068c0072 a0071c0079 a0074c0070 a0075c0076 a0098c0104 a0112c0131	a0001c0001t0003 a0001c0001t0005 a0001c0008t0003 others(32): Show a0001c0001t0003 a0001c0001t0005 a0001c0008t0003 a0001c0140t0001 a0001c0141t0005 a0003c0003t0007 a0005c0002t0002 a0006c0007t0004 a0006c0038t0001 a0006c0078t0004 a0008c0026t0003 a0010c0142t0003 a0011c0063t0005 a0012c0054t0003 a0015c0010t0002 a0021c0040t0001 a0022c0039t0001 a0022c0080t0001 a0027c0135t0001 a0029c0024t0001 a0029c0024t0007 a0033c0103t0004 a0036c0123t0002 a0038c0065t0001 a0056c0205t0001 a0063c0067t0003 a0065c0083t0002 a0066c0084t0002 a0067c0085t0004 a0068c0072t0015 a0071c0079t0002 a0074c0070t0003 a0075c0076t0007 a0098c0104t0002 a0112c0131t0002	a0001c0001t0003g0110 a0001c0001t0005g0002 a0001c0001t0005g0101 others(42): Show a0001c0001t0003g0110 a0001c0001t0005g0002 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0008t0003g0283 a0001c0140t0001g0244 a0001c0141t0005g0252 a0003c0003t0007g0260 a0005c0002t0002g0239 a0006c0007t0004g0250 a0006c0007t0004g0251 a0006c0007t0004g0253 a0006c0038t0001g0237 a0006c0078t0004g0316 a0008c0026t0003g0245 a0010c0142t0003g0258 a0011c0063t0005g0002 a0011c0063t0005g0106 a0012c0054t0003g0256 a0015c0010t0002g0236 a0015c0010t0002g0249 a0021c0040t0001g0254 a0022c0039t0001g0081 a0022c0039t0001g0267 a0022c0080t0001g0231 a0027c0135t0001g0273 a0029c0024t0001g0235 a0029c0024t0007g0255 a0029c0024t0007g0263 a0033c0103t0004g0145 a0036c0123t0002g0105 a0038c0065t0001g0259 a0056c0205t0001g0261 a0063c0067t0003g0357 a0065c0083t0002g0248 a0066c0084t0002g0232 a0067c0085t0004g0247 a0068c0072t0015g0265 a0071c0079t0002g0264 a0074c0070t0003g0242 a0075c0076t0007g0285 a0098c0104t0002g0246 a0112c0131t0002g0176	45	400	0.1125	-300	c.319 others(17): Show c.319+2038_319+2337del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078285	CAGAAACC others(293): Show CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG02273.hp1 others(3): Show HG00280.hp1 HG00673.hp1 HG02273.hp1 HG02293.hp1 HG02615.hp1 NA18944.hp2	a0003 a0010 a0051 others(2): Show a0003 a0010 a0051 a0073 a0102	a0003c0003 a0003c0050 a0010c0015 others(3): Show a0003c0003 a0003c0050 a0010c0015 a0051c0185 a0073c0071 a0102c0146	a0003c0003t0001 a0003c0050t0001 a0010c0015t0003 others(3): Show a0003c0003t0001 a0003c0050t0001 a0010c0015t0003 a0051c0185t0002 a0073c0071t0003 a0102c0146t0001	a0003c0003t0001g0257 a0003c0050t0001g0079 a0010c0015t0003g0100 others(3): Show a0003c0003t0001g0257 a0003c0050t0001g0079 a0010c0015t0003g0100 a0051c0185t0002g0099 a0073c0071t0003g0358 a0102c0146t0001g0076	6	400	0.0150	-300	c.319 others(17): Show c.319+2100_319+2399del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078347	CGGGCCAG others(293): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGGT GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0004 a0048 a0004 a0048	a0004c0033 a0048c0056 a0004c0033 a0048c0056	a0004c0033t0002 a0048c0056t0041 a0004c0033t0002 a0048c0056t0041	a0004c0033t0002g0362 a0048c0056t0041g0365 a0004c0033t0002g0362 a0048c0056t0041g0365	2	400	0.0050	-300	c.319 others(17): Show c.319+2200_319+2499del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
VCX3B_chrX_8459830_8471510	8466035	GGAACCAC others(293): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGA GCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTG AGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGA GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGA GCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTG AGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGA A	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19088.hp1 NA19088.hp1	a0062 a0062	a0062c0074 a0062c0074	a0062c0074t0022 a0062c0074t0022	a0062c0074t0022g0059 a0062c0074t0022g0059	1	271	0.0037	-300	c.418 others(7): Show c.418_717del	p.Val others(13): Show p.Val140_Glu239del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	725/1175	418/741	140/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466913	AGGGAGGG others(293): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0002 a0004c0004t0004g0002	1	271	0.0037	-300	c.53 others(9): Show c.531_*830del		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					404		chrX	TogoVar
VPS36_chr13_52407606_52455634	52445639	AAAAAAAA others(293): Show AAAAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCTAGGCGGGCGGATCACGAGGTCAGGAGATCAAGAC CATCCTGACTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA AAATAGCCGGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGG CGGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCTATCT C	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG03688.hp2 others(2): Show HG00544.hp2 HG01099.hp2 HG03688.hp2 NA18994.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0210 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0210	5	338	0.0148	-300	c.97- others(15): Show c.97-3494_97-3195del		VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13						chr13	TogoVar
WDR37_chr10_1051385_1137372	1079149	ATCTGGGC others(293): Show ATCTGGGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGCGATTCTCATGC CTCAGCCTCCCAAGTAGCTGGGATCACAGGCACCCACCACCATGCCTGGC TAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCT GGTCTTGAACCCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCAAAAT TGTTGGGATTACAGGCATGAGATACTGTGCCCAGCCCAGAATAATGTTTT TAATCGTGCAGAATCAATCACTATGGAAACTATGTTGAAATGCGGGTGCT G	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0359 a0001c0001t0034g0359	1	362	0.0028	-300	c.236 others(15): Show c.236-858_236-559del		WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFAND2A_chr7_1147907_1165196	1156100	AAAGGGGT others(293): Show AAAGGGGTGGACCGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGA AGGGGTGGACTGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAG CTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGG CTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGA AGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACC GCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCC G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02280.hp2 others(12): Show HG00639.hp2 HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0002g0095 a0001c0001t0003g0008 a0001c0001t0003g0169 others(4): Show a0001c0001t0002g0095 a0001c0001t0003g0008 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0002t0004g0076	15	432	0.0347	-300	c.151 others(15): Show c.151-816_151-517del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZKSCAN5_chr7_99499662_99539700	99518698	GGGAGTCT others(293): Show GGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGC TCATTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCT CCTGAGCAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTT GCATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCTA ACTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATT ACAGGCGTGAGCCACCGTACCTGGCCCCCACCTTTTTTTTTTTTTTGAGA C	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	312	0.0032	-300	c.554 others(16): Show c.554-1091_554-792del		ZKSCAN5	ENSG00000196652.12	transcript	ENST00000326775.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393833	GGGGGCAG others(293): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG T	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	346	0.0029	-300	c.181 others(21): Show c.1811-13830_1811-13531del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ADARB2_chr10_1172313_1742525	1236425	CCTGCCTC others(292): Show CCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCT GATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGG AGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACAT GCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0010 a0002c0016t0006g0010	1	106	0.0094	-299	c.136 others(19): Show c.1362-2879_1362-2581del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1699657	TCAATACA others(292): Show TCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACA CGCAAACCCACTTCCACCAGGGAGACCGGGGCACTCGCCAATACACACAA TCCCACTCCACCGGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACT CCACCGGGGAGACCAGGCACTCACCAATACACGCAATCCCACTCCACCGG GAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCGGGAGACCAG ACGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCGGGCACTCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02615.hp1 others(4): Show HG00639.hp1 HG02145.hp1 HG02615.hp1 HG03139.hp1 HG04184.hp1 NA18945.hp1 NA19070.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0010	a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 others(4): Show a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 a0001c0003t0001 a0002c0002t0007 a0002c0002t0065 a0009c0010t0006	a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 others(4): Show a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 a0001c0003t0001g0052 a0002c0002t0007g0002 a0002c0002t0065g0086 a0009c0010t0006g0014	7	106	0.0660	-299	c.100 others(19): Show c.100+37095_100+37393del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AHI1_chr6_135278532_135502740	135388750	GCCTGTAA others(292): Show GCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCGGATCACTTGAGG TCAGGAGTTCAAGACCAGCCTGGTCAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTAGGCATGGTGGCAGGCGCCTGCAATCCCAGC TACTCAGGAGGCTGAGGCACGAGTATCACTGGAATCTGAGAGGCGGAGGT TACAGCGAGCTGAGACCGCGCCACTGCACTCCAGCCTGGGTGACAAGAGT GAGGTTCCGTGTTAAAAAACAAAAAATACGGCCAAGTGCAGTGGCTCATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0008 a0001c0003t0004g0009	2	220	0.0091	-299	c.310 others(19): Show c.3109+5727_3109+6025del		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28						chr6	TogoVar

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Search Results (Total: 10000 hits)