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
RNF212_chr4_1066478_1118564	1070979	CTTACAAT others(69): Show CTTACAATTTTTTCTGTGTGCTTGAAGTATTTTCAAAATAAATTATTTTA AAAAACTAATTTTTTTAAATACTGTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	406	0.0025	-76	c.18 others(87): Show c.1819_*1894delTAACAGTATTTAAAAAAATTAGTTTTTTAAAATA ATTTATTTTGAAAATACTTCAAGCACACAGAAAAAATTGTAA	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		498		chr4	TogoVar
RNF220_chr1_44400255_44656723	44613314	CCAACCCC others(69): Show CCAACCCCACACCTGTAAGCAGAGGCCACAGAGCATCCATGGATATGCAG GGATGTTTCTGGATTAATAGGGCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG02055.hp2 others(12): Show HG00099.hp1 HG01891.hp2 HG02055.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0001c0004t0003 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0030 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0189 a0001c0001t0003g0145 a0001c0001t0004g0181 a0001c0001t0006g0009 a0001c0001t0009g0057 a0001c0002t0002g0010 a0001c0002t0002g0073 a0001c0004t0003g0054 a0002c0005t0001g0008	15	218	0.0688	-76	c.626 others(91): Show c.626-815_626-740delCCATGGATATGCAGGGATGTTTCTGGATTA ATAGGGCTCTTCAACCCCACACCTGTAAGCAGAGGCCACAGAGCAT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNFT2_chr12_116733315_116858631	116841820	AATATATA others(69): Show AATATATATATATAAATATATATATAAATATATATAAAAATATATATATA AATATATATATAAATATATATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(119): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19082.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0018 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0066 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0029 a0001c0004t0068 a0001c0007t0025 a0001c0007t0046 a0001c0008t0003 a0001c0008t0028 a0001c0008t0059 a0001c0012t0001 a0001c0019t0002	a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0092 others(119): Show a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0104 a0001c0001t0002g0133 a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0210 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0253 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0144 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0191 a0001c0001t0003g0199 a0001c0001t0003g0212 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0004g0226 a0001c0001t0009g0116 a0001c0001t0009g0118 a0001c0001t0009g0130 a0001c0001t0009g0153 a0001c0001t0009g0161 a0001c0001t0010g0222 a0001c0001t0010g0233 a0001c0001t0014g0156 a0001c0001t0015g0112 a0001c0001t0017g0167 a0001c0001t0017g0200 a0001c0001t0017g0213 a0001c0001t0024g0126 a0001c0001t0024g0147 a0001c0001t0027g0121 a0001c0001t0027g0125 a0001c0001t0029g0225 a0001c0001t0038g0219 a0001c0001t0040g0143 a0001c0001t0044g0255 a0001c0001t0058g0109 a0001c0001t0060g0090 a0001c0001t0061g0148 a0001c0001t0071g0119 a0001c0002t0001g0066 a0001c0002t0001g0111 a0001c0002t0001g0250 a0001c0002t0001g0264 a0001c0002t0002g0142 a0001c0002t0002g0265 a0001c0002t0003g0008 a0001c0002t0010g0266 a0001c0002t0012g0014 a0001c0002t0012g0089 a0001c0002t0018g0022 a0001c0002t0062g0185 a0001c0002t0063g0263 a0001c0002t0064g0152 a0001c0002t0066g0010 a0001c0003t0006g0165 a0001c0004t0001g0083 a0001c0004t0001g0091 a0001c0004t0001g0113 a0001c0004t0002g0025 a0001c0004t0029g0055 a0001c0004t0068g0024 a0001c0007t0025g0056 a0001c0007t0046g0053 a0001c0008t0003g0206 a0001c0008t0028g0138 a0001c0008t0028g0214 a0001c0008t0059g0084 a0001c0012t0001g0123 a0001c0012t0001g0239 a0001c0019t0002g0267	122	268	0.4552	-76	c.120 others(95): Show c.1200+5550_1200+5625delTAAATATATATATAAATATATATAAA AATATATATATAAATATATATATAAATATATATAAAAATATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO1_chr3_78592239_79772998	78842404	ATTTTTAT others(69): Show ATTTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATAT ATTTTTATATATATGAGCCATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0009 a0002c0004t0007g0010 a0002c0004t0007g0009 a0002c0004t0007g0010	2	44	0.0455	-76	c.500 others(95): Show c.500-95580_500-95505delATATATATGGCTCATATATATAAAAA TATATATGGCTCATATATATAAAAATATATATGGCTCATATATATAAAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROCK2_chr2_11174759_11349636	11288659	GAGCCTGG others(69): Show GAGCCTGGGAGGGTAAACAGGGAAGCTAGAGGATTGCAGAAAACGAAACA GCAGTAAAAATAAACCTTTAGGGGACT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0031 a0002c0013t0031	a0002c0013t0031g0004 a0002c0013t0031g0004	1	320	0.0031	-76	c.142 others(91): Show c.142-999_142-924delAGTCCCCTAAAGGTTTATTTTTACTGCTGT TTCGTTTTCTGCAATCCTCTAGCTTCCCTGTTTACCCTCCCAGGCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA1_chr17_1825005_1905082	1904282	TTATATAG others(69): Show TTATATAGCCAACTCAGAAGTGATCGTGTAAACTTTTAATAATTGCGAGC CGTTCTTATAAAATTATGCCCGTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0318 a0001c0002t0005g0318	1	402	0.0025	-76	c.71 others(87): Show c.7108_*7183delTATATAGCCAACTCAGAAGTGATCGTGTAAACTT TTAATAATTGCGAGCCGTTCTTATAAAATTATGCCCGTTCCC	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding		4201		chr17	TogoVar
RPH3AL_chr17_207389_357807	234265	TGAGCAGG others(69): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAG CGGCTACTTACCCTGACCAACTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG02818.hp2 others(1): Show HG00140.hp2 HG01515.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020	a0001c0001t0005g0132 a0001c0001t0010g0015 a0001c0001t0016g0093 others(1): Show a0001c0001t0005g0132 a0001c0001t0010g0015 a0001c0001t0016g0093 a0001c0001t0020g0127	4	133	0.0301	-76	c.613 others(95): Show c.613+12770_613+12845delGGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80889806	AAGGGAGG others(69): Show AAGGGAGGCCCCCGTACGCAGCAGGATGTGCGGCCTCCGAGGGAGGCCCC CGTATGCAGCAGGATGTGCGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(76): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(41): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0024 a0001c0027 a0001c0030 a0001c0033 a0001c0034 a0001c0035 a0001c0042 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0001c0057 a0001c0059 a0001c0070 a0001c0071 a0001c0073 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0087 a0001c0089 a0001c0091 a0001c0093 a0001c0095 a0001c0097 a0003c0069 a0004c0082 a0005c0092	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(68): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0004t0023 a0001c0005t0075 a0001c0006t0013 a0001c0006t0022 a0001c0006t0063 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0008t0027 a0001c0008t0036 a0001c0009t0001 a0001c0009t0078 a0001c0010t0009 a0001c0010t0056 a0001c0010t0094 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0015t0008 a0001c0015t0046 a0001c0017t0015 a0001c0019t0003 a0001c0019t0005 a0001c0022t0001 a0001c0022t0022 a0001c0024t0002 a0001c0024t0003 a0001c0027t0016 a0001c0027t0096 a0001c0030t0003 a0001c0033t0023 a0001c0034t0004 a0001c0035t0010 a0001c0035t0095 a0001c0042t0055 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0051t0060 a0001c0057t0077 a0001c0059t0080 a0001c0070t0020 a0001c0071t0088 a0001c0073t0002 a0001c0080t0011 a0001c0081t0002 a0001c0084t0059 a0001c0085t0003 a0001c0087t0002 a0001c0089t0006 a0001c0091t0016 a0001c0093t0070 a0001c0095t0003 a0001c0097t0001 a0003c0069t0044 a0004c0082t0010 a0005c0092t0012	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(76): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0004t0023g0074 a0001c0005t0075g0009 a0001c0006t0013g0068 a0001c0006t0022g0090 a0001c0006t0063g0160 a0001c0006t0076g0192 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0008t0027g0143 a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0078g0021 a0001c0010t0009g0058 a0001c0010t0056g0183 a0001c0010t0094g0054 a0001c0013t0089g0047 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0033t0023g0075 a0001c0034t0004g0133 a0001c0034t0004g0187 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0042t0055g0179 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0078 a0001c0051t0060g0116 a0001c0057t0077g0016 a0001c0059t0080g0006 a0001c0070t0020g0003 a0001c0071t0088g0035 a0001c0073t0002g0070 a0001c0080t0011g0077 a0001c0081t0002g0022 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0087t0002g0051 a0001c0089t0006g0159 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0095t0003g0137 a0001c0097t0001g0157 a0003c0069t0044g0099 a0004c0082t0010g0052 a0005c0092t0012g0163	79	196	0.4031	-76	c.198 others(95): Show c.1984-1860_1984-1785delTGCAGCAGGATGTGCGGCCTCCGAGG GAGGCCCCCGTACGCAGCAGGATGTGCGGCCTCCGAGGGAGGCCCCCGTA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD1_chr16_779974_793381	790134	ACCTAGGA others(69): Show ACCTAGGAGGGGCCCAGAGGCAATTGTCCTCCCTTCCCCACAGGGCTCTC TCCTCCACGTCCCATGGCGAGGCGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-76	c.-19 others(87): Show c.-1962_-1887delCACCGCCTCGCCATGGGACGTGGAGGAGAGAGCC CTGTGGGGAAGGGAGGACAATTGCCTCTGGGCCCCTCCTAGG	RPUSD1	ENSG00000007376.8	transcript	ENST00000007264.7	protein_coding		1754		chr16	TogoVar
RTN1_chr14_59590983_59875776	59749212	ATATATAT others(69): Show ATATATATCTATATATCTATATATATCTATATATATCTATATATCTATAT ATATCTATATATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02630.hp2 others(7): Show HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02976.hp1 HG03209.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0003t0001g0072	10	172	0.0581	-76	c.242 others(93): Show c.242-2807_242-2732delGATATATATAGATATATATATAGATATA TATAGATATATAGATATATATAGATATATATAGATATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
S1PR4_chr19_3173769_3185332	3173999	CCTCATGG others(69): Show CCTCATGGGACACCTGTGTTCTCATGGGACGCCTGCATTCTCATGGGACG CCTGTGCCCTCATGGGACACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	418	0.0024	-76	c.-47 others(87): Show c.-4793_-4718delCTCATGGGACACCTGTGTTCTCATGGGACGCCTG CATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4769		chr19	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(69): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0038 a0007c0038	a0007c0038t0016 a0007c0038t0016	a0007c0038t0016g0265 a0007c0038t0016g0265	1	322	0.0031	-76	c.157 others(93): Show c.157-2517_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBK2_chr19_55523611_55542133	55538095	GGGACCCG others(69): Show GGGACCCGGACTCCTGGGCCTGATGGAGGAGGGGGTTGAGGACCTGGACT CCTAGGTCTGAGGGAGGAGGGGGTTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	434	0.0023	-76	c.-11 others(87): Show c.-1120_-1045delTCAACCCCCTCCTCCCTCAGACCTAGGAGTCCAG GTCCTCAACCCCCTCCTCCATCAGGCCCAGGAGTCCGGGTCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		963		chr19	TogoVar
SBK3_chr19_55535656_55550543	55538095	GGGACCCG others(69): Show GGGACCCGGACTCCTGGGCCTGATGGAGGAGGGGGTTGAGGACCTGGACT CCTAGGTCTGAGGGAGGAGGGGGTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-76	c.26 others(87): Show c.2675_*2750delTCAACCCCCTCCTCCCTCAGACCTAGGAGTCCAG GTCCTCAACCCCCTCCTCCATCAGGCCCAGGAGTCCGGGTCC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		2560		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	TTACAGTA others(69): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	332	0.0030	-76	c.632 others(93): Show c.632+8237_632+8312delCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(69): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	370	0.0027	-76	c.-47 others(87): Show c.-4727_-4652delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C1_chr11_188078_199575	195969	GGGACATA others(69): Show GGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(41): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG03041.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18971.hp2 NA18979.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0014	44	354	0.1243	-76	c.15 others(87): Show c.1520_*1595delGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1395		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38963352	GATATATA others(69): Show GATATATATATATATATATATATATATATATATATGATGGAGATATATAT ATATATATATATATATGATGGAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG02040.hp2 others(3): Show HG00558.hp2 HG00597.hp2 HG02040.hp2 HG02056.hp2 NA18964.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 others(3): Show a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0180	6	314	0.0191	-76	c.-27 others(95): Show c.-279-3005_-279-2930delATATCTCCATCATATATATATATATA TATATATATCTCCATCATATATATATATATATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(69): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG03579.hp2 others(1): Show HG00099.hp1 HG01099.hp1 HG03579.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0002t0001g0038 a0001c0002t0001g0039 others(1): Show a0001c0001t0001g0098 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0056	4	306	0.0131	-76	c.-8- others(93): Show c.-8-15481_-8-15406delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	TCCCGTGT others(69): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	290	0.0035	-76	c.166 others(93): Show c.1662+470_1662+545delCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288742	TGTCTCTG others(69): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	290	0.0035	-76	c.166 others(93): Show c.1662+727_1662+802delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288872	TGTCTCTG others(69): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	290	0.0035	-76	c.166 others(93): Show c.1662+857_1662+932delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	CCCCGAGT others(69): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp2 HG01346.hp1 HG02300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0006 a0003c0004t0003g0106 a0003c0004t0003g0006 a0003c0004t0003g0106	2	290	0.0069	-76	c.166 others(95): Show c.1662+1003_1662+1078delAGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289067	TCCGTCCC others(69): Show TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0259 a0001c0046t0001g0259	1	290	0.0035	-76	c.166 others(95): Show c.1662+1038_1662+1113delCCGAGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289120	CCTGCTCC others(69): Show CCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	-76	c.166 others(95): Show c.1662+1106_1663-1053delCCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289219	TCCGTCCC others(69): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	290	0.0035	-76	c.166 others(94): Show c.1663-1044_1663-969delCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289261	TCCCCCGT others(69): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02895.hp1 others(1): Show HG02258.hp1 HG02622.hp2 HG02895.hp1 NA19009.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0011 a0001c0001 a0004c0008 a0005c0011	a0001c0001t0002 a0004c0008t0001 a0005c0011t0001 a0001c0001t0002 a0004c0008t0001 a0005c0011t0001	a0001c0001t0002g0229 a0004c0008t0001g0239 a0005c0011t0001g0156 others(1): Show a0001c0001t0002g0229 a0004c0008t0001g0239 a0005c0011t0001g0156 a0005c0011t0001g0157	4	290	0.0138	-76	c.166 others(94): Show c.1663-1006_1663-931delCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289281	TCCCGTGT others(69): Show TCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0273 a0006c0010t0007g0273	1	290	0.0035	-76	c.166 others(93): Show c.1663-981_1663-906delCCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708269	CACCTCCA others(69): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGT CCAGTTACCTCCCACCAGGCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01934.hp2 others(12): Show HG01123.hp2 HG01175.hp2 HG01934.hp2 HG01978.hp2 HG02145.hp2 HG02559.hp2 HG02897.hp1 HG02922.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03710.hp1 HG04228.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013	a0001c0002 a0001c0004 a0001c0025 others(12): Show a0001c0002 a0001c0004 a0001c0025 a0001c0026 a0001c0027 a0001c0040 a0001c0072 a0001c0092 a0002c0042 a0002c0066 a0003c0033 a0004c0056 a0006c0006 a0007c0077 a0013c0084	a0001c0002t0004 a0001c0004t0005 a0001c0025t0024 others(12): Show a0001c0002t0004 a0001c0004t0005 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0040t0001 a0001c0072t0065 a0001c0092t0048 a0002c0042t0002 a0002c0066t0023 a0003c0033t0002 a0004c0056t0006 a0006c0006t0001 a0007c0077t0003 a0013c0084t0045	a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0025t0024g0088 others(12): Show a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0040t0001g0040 a0001c0072t0065g0027 a0001c0092t0048g0057 a0002c0042t0002g0105 a0002c0066t0023g0089 a0003c0033t0002g0103 a0004c0056t0006g0098 a0006c0006t0001g0036 a0007c0077t0003g0099 a0013c0084t0045g0011	15	116	0.1293	-76	c.713 others(95): Show c.713+66545_713+66620delACCTCCAAGGTCCAGTTACCTCCCAC CAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77469891	TCACTCAT others(69): Show TCACTCATCCACCCATCCACTCATTTACCCATCTATCCATCCACTCATCC ACCTGCCCATCCACTCACCCACCCATC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0147 a0002c0002t0050g0147	1	150	0.0067	-76	c.722 others(95): Show c.722-12233_722-12158delTCATTTACCCATCTATCCATCCACTC ATCCACCTGCCCATCCACTCACCCACCCATCCACTCATCCACCCATCCAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77469891	TCACTCAT others(69): Show TCACTCATCCACCCATCCACTCATTTACCCATCTATCCATCCACTCATCC ACCTGCCCATCCACTCACCCACCCATC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0133 a0002c0002t0036g0133	1	158	0.0063	-76	c.668 others(95): Show c.668-12233_668-12158delTCATTTACCCATCTATCCATCCACTC ATCCACCTGCCCATCCACTCACCCACCCATCCACTCATCCACCCATCCAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SFMBT2_chr10_7153624_7416034	7358160	TCTGCATG others(69): Show TCTGCATGGCCCTGTGACCTCAACATGGCCCTAGAACATCTGCATGGCCC TGGAATGGAGGCACTGCCCTAGAACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG02148.hp1 others(1): Show HG00738.hp1 HG01496.hp1 HG02148.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0001 a0001c0001t0003 a0001c0001t0033	a0001c0001t0001g0065 a0001c0001t0003g0105 a0001c0001t0003g0141 others(1): Show a0001c0001t0001g0065 a0001c0001t0003g0105 a0001c0001t0003g0141 a0001c0001t0033g0142	4	144	0.0278	-76	c.436 others(93): Show c.436+9413_436+9488delGTGTTCTAGGGCAGTGCCTCCATTCCAG GGCCATGCAGATGTTCTAGGGCCATGTTGAGGTCACAGGGCCATGCAG	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFTPB_chr2_85652314_85673199	85666423	TTGTGTGT others(69): Show TTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTT GTGTCTGGCCGGCTTGGGTGCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	426	0.0024	-76	c.393 others(91): Show c.393+118_393+193delCACACAGCACCCAAGCCGGCCAGACACAAA CACACAGCACCCCAGCCAGCCGGACACACACACACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SH2D4A_chr8_19308693_19401218	19387004	TACCACCA others(69): Show TACCACCACACCCAGCTAATAGTTTTTGTTGTTCTTTGTAGAGATGGGGT CTTGCCAAGCTGGAAATGCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0002 a0008c0033t0002	a0008c0033t0002g0053 a0008c0033t0002g0053	1	354	0.0028	-76	c.104 others(95): Show c.1049-6086_1049-6011delCACCACCACACCCAGCTAATAGTTTT TGTTGTTCTTTGTAGAGATGGGGTCTTGCCAAGCTGGAAATGCAGGTGTA	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3PXD2A_chr10_103589027_103860576	103701035	TCCATCCA others(69): Show TCCATCCACCATCCATCCATCCATCCATCATCCATCCATCCATCCATCAT CCATTTACCATCTATCCATCTACCATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(63): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02080.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18990.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19077.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0016 a0001c0017 a0001c0024 a0003c0007 a0003c0019 a0005c0013 a0008c0015 a0011c0021	a0001c0001t0014 a0001c0001t0023 a0001c0001t0029 others(39): Show a0001c0001t0014 a0001c0001t0023 a0001c0001t0029 a0001c0001t0091 a0001c0002t0002 a0001c0002t0009 a0001c0002t0012 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0087 a0001c0002t0119 a0001c0002t0124 a0001c0003t0034 a0001c0003t0055 a0001c0003t0062 a0001c0004t0001 a0001c0004t0010 a0001c0004t0013 a0001c0004t0020 a0001c0004t0028 a0001c0004t0052 a0001c0004t0053 a0001c0004t0082 a0001c0004t0085 a0001c0005t0016 a0001c0005t0069 a0001c0005t0078 a0001c0005t0117 a0001c0009t0088 a0001c0010t0028 a0001c0016t0084 a0001c0017t0002 a0001c0024t0075 a0003c0007t0001 a0003c0007t0010 a0003c0007t0083 a0003c0019t0001 a0005c0013t0014 a0008c0015t0086 a0011c0021t0123	a0001c0001t0014g0101 a0001c0001t0014g0156 a0001c0001t0023g0152 others(63): Show a0001c0001t0014g0101 a0001c0001t0014g0156 a0001c0001t0023g0152 a0001c0001t0023g0228 a0001c0001t0029g0072 a0001c0001t0029g0075 a0001c0001t0091g0232 a0001c0002t0002g0073 a0001c0002t0009g0176 a0001c0002t0012g0054 a0001c0002t0012g0064 a0001c0002t0047g0237 a0001c0002t0048g0130 a0001c0002t0048g0143 a0001c0002t0049g0120 a0001c0002t0049g0190 a0001c0002t0050g0124 a0001c0002t0087g0194 a0001c0002t0119g0122 a0001c0002t0124g0109 a0001c0003t0034g0052 a0001c0003t0055g0071 a0001c0003t0062g0012 a0001c0004t0001g0087 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0148 a0001c0004t0001g0177 a0001c0004t0010g0022 a0001c0004t0010g0036 a0001c0004t0010g0077 a0001c0004t0013g0196 a0001c0004t0013g0198 a0001c0004t0013g0200 a0001c0004t0020g0104 a0001c0004t0020g0118 a0001c0004t0020g0185 a0001c0004t0028g0056 a0001c0004t0052g0037 a0001c0004t0053g0062 a0001c0004t0082g0234 a0001c0004t0085g0221 a0001c0005t0016g0161 a0001c0005t0016g0209 a0001c0005t0016g0210 a0001c0005t0069g0042 a0001c0005t0078g0055 a0001c0005t0117g0116 a0001c0009t0088g0091 a0001c0010t0028g0032 a0001c0016t0084g0131 a0001c0017t0002g0013 a0001c0024t0075g0050 a0003c0007t0001g0141 a0003c0007t0001g0147 a0003c0007t0001g0151 a0003c0007t0001g0159 a0003c0007t0001g0193 a0003c0007t0001g0204 a0003c0007t0010g0040 a0003c0007t0083g0126 a0003c0019t0001g0123 a0005c0013t0014g0108 a0005c0013t0014g0115 a0008c0015t0086g0153 a0011c0021t0123g0138	66	250	0.2640	-76	c.399 others(93): Show c.399-8055_399-7980delGATGGTAGATGGATAGATGGTAAATGGA TGATGGATGGATGGATGGATGATGGATGGATGGATGGATGGTGGATGG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(69): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG02258.hp1 others(5): Show HG01358.hp1 HG01361.hp1 HG02258.hp1 HG02965.hp1 HG03017.hp1 HG03654.hp1 NA18944.hp1 NA19082.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0004c0003t0001	a0001c0001t0001g0037 a0002c0002t0001g0023 a0002c0002t0001g0054 others(5): Show a0001c0001t0001g0037 a0002c0002t0001g0023 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0105 a0002c0002t0001g0121 a0002c0002t0004g0007 a0004c0003t0001g0142	8	175	0.0457	-76	c.295 others(95): Show c.2957+9261_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	400857	GACCCCGC others(69): Show GACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCC CGCTCACCCCGGACCCCGCTCACCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	242	0.0041	-76	c.49 others(87): Show c.4963_*5038delGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGGG GGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4858		chr11	TogoVar
SIGIRR_chr11_400716_419999	401008	CCGGACCC others(69): Show CCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCC GCCCCGCTCACCCCCGGCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	242	0.0041	-76	c.48 others(87): Show c.4812_*4887delTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGGGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGTCCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4707		chr11	TogoVar
SIGIRR_chr11_400716_419999	401367	GCCCCGCT others(69): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01258.hp1 others(2): Show HG00099.hp1 HG01175.hp1 HG01258.hp1 HG02300.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215	5	242	0.0207	-76	c.44 others(87): Show c.4453_*4528delGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4348		chr11	TogoVar
SIGIRR_chr11_400716_419999	401469	CACCCGCC others(69): Show CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACAC CCGCCCCGCTCACACCCGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	242	0.0041	-76	c.43 others(87): Show c.4351_*4426delTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAA CGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4246		chr11	TogoVar
SIGIRR_chr11_400716_419999	401476	CCCGCTCA others(69): Show CCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCC GCTCACACCCGCCCCGCTCACCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0029 a0003c0008t0001g0029	1	242	0.0041	-76	c.43 others(87): Show c.4344_*4419delCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGG GTGTGAACGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4239		chr11	TogoVar
SIGIRR_chr11_400716_419999	402665	CGGCCCCG others(69): Show CGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGCC CCGCTCACCCCTGCCCCGCTCACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	242	0.0041	-76	c.31 others(87): Show c.3155_*3230delCGGGGTGAGCGGGGCAGGGGTGAGCGGGGCGGGG GTGAGCGGGGTCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3050		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232415863	TCCCTCCC others(69): Show TCCCTCCCAGAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTC AGTCAGTCAGAACACGGGCACCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02809.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0137 a0001c0003t0006g0003 a0001c0003t0006g0013 a0001c0003t0001g0137 a0001c0003t0006g0003 a0001c0003t0006g0013	3	292	0.0103	-76	c.463 others(93): Show c.4631-314_4631-239delGCAGTGGTGCCCGTGTTCTGACTGACTG ACTCTGGGAGGGACAGTGGTGCCCGTGTTCTGACTGACTCTGGGAGGG	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232416028	CAGTCAGT others(69): Show CAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCA GAACACGGGCACCACTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(14): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01952.hp2 HG01993.hp1 HG03017.hp1 HG03491.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0011 a0014 a0018	a0001c0002 a0002c0006 a0002c0008 others(7): Show a0001c0002 a0002c0006 a0002c0008 a0002c0024 a0005c0009 a0008c0014 a0011c0042 a0011c0051 a0014c0048 a0018c0041	a0001c0002t0001 a0002c0006t0004 a0002c0008t0001 others(10): Show a0001c0002t0001 a0002c0006t0004 a0002c0008t0001 a0002c0008t0004 a0002c0024t0005 a0005c0009t0004 a0005c0009t0005 a0005c0009t0008 a0008c0014t0012 a0011c0042t0004 a0011c0051t0005 a0014c0048t0008 a0018c0041t0005	a0001c0002t0001g0156 a0001c0002t0001g0193 a0001c0002t0001g0219 others(14): Show a0001c0002t0001g0156 a0001c0002t0001g0193 a0001c0002t0001g0219 a0002c0006t0004g0162 a0002c0008t0001g0184 a0002c0008t0004g0226 a0002c0024t0005g0051 a0005c0009t0004g0207 a0005c0009t0005g0017 a0005c0009t0005g0042 a0005c0009t0005g0066 a0005c0009t0008g0283 a0008c0014t0012g0273 a0011c0042t0004g0214 a0011c0051t0005g0032 a0014c0048t0008g0257 a0018c0041t0005g0070	17	292	0.0582	-76	c.463 others(93): Show c.4631-479_4631-404delCTGGGAGGGACAGTGGTGCCCGTGTTCT GACTGACTGACTCTGGGAGGGACAGTGGTGCCCGTGTTCTGACTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIRPG_chr20_1624152_1662779	1657113	AGATGGCC others(69): Show AGATGGCCTTCTACAAGCCAAGGAGAAAGACCTCAGTAGAAACTAACCCT GCTGGCATCTTGATTTTGCAATTCAGC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	396	0.0025	-76	c.73+ others(89): Show c.73+453_73+528delGCTGAATTGCAAAATCAAGATGCCAGCAGGGT TAGTTTCTACTGAGGTCTTTCTCCTTGGCTTGTAGAAGGCCATC	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SLC17A9_chr20_62947709_62974585	62957051	GCAGAGGA others(69): Show GCAGAGGATGCGACTCCTGGGGAAGGAGCTTGGTGGACACAGAGGATGCG ACTCCTGGGGAAGGAGCTTCGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01346.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG01346.hp2 HG01928.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0010 a0001c0008t0002 a0001c0008t0010	a0001c0008t0002g0194 a0001c0008t0010g0040 a0001c0008t0010g0088 a0001c0008t0002g0194 a0001c0008t0010g0040 a0001c0008t0010g0088	4	432	0.0093	-76	c.257 others(91): Show c.257+126_257+201delCACAGAGGATGCGACTCCTGGGGAAGGAGC TTCGTGGACACAGAGGATGCGACTCCTGGGGAAGGAGCTTGGTGGA	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A29_chr14_100286116_100311444	100304566	TGGGGGCA others(69): Show TGGGGGCAGGGGGGTGGCCTGTGCCCCAGTGCTACAGCACCAGACAGTGC CAGTCCTTGACCCACAAACCTGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03834.hp2 HG03688.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0123 a0001c0001t0004g0124	2	410	0.0049	-76	c.34+ others(91): Show c.34+1557_34+1632delTGCCCCAGGTTTGTGGGTCAAGGACTGGCA CTGTCTGGTGCTGTAGCACTGGGGCACAGGCCACCCCCCTGCCCCC	SLC25A29	ENSG00000197119.13	transcript	ENST00000359232.8	protein_coding	1/3			chr14	TogoVar
SLC28A1_chr15_84879662_84950798	84928548	TTCTTTCT others(69): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG03209.hp1 others(1): Show HG02572.hp2 HG02647.hp1 HG03209.hp1 HG03471.hp1	a0001 a0016 a0026 a0001 a0016 a0026	a0001c0004 a0016c0033 a0026c0056 a0001c0004 a0016c0033 a0026c0056	a0001c0004t0004 a0016c0033t0001 a0026c0056t0001 a0001c0004t0004 a0016c0033t0001 a0026c0056t0001	a0001c0004t0004g0283 a0016c0033t0001g0181 a0016c0033t0001g0391 others(1): Show a0001c0004t0004g0283 a0016c0033t0001g0181 a0016c0033t0001g0391 a0026c0056t0001g0368	4	396	0.0101	-76	c.108 others(95): Show c.1083+4440_1083+4515delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC66A2_chr18_79897420_79956653	79919484	TGAGAGGT others(69): Show TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0285 a0001c0001t0008g0285	1	352	0.0028	-76	c.392 others(90): Show c.392-160_392-85delCCTCGGTTCCTGTCTCTCCCCACTGACCTTG ACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCTTGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919847	AGGAGAGA others(69): Show AGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGTGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18979.hp1 NA18982.hp1 others(4): Show HG02572.hp2 NA18979.hp1 NA18982.hp1 NA19002.hp1 NA19005.hp2 NA19012.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0317 a0001c0001t0006g0246 a0001c0001t0006g0248 others(4): Show a0001c0001t0003g0317 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0253 a0001c0001t0006g0257	7	352	0.0199	-76	c.392 others(91): Show c.392-523_392-448delCCACTGACCTTGACCTCTCACTCGGTTCCT GTCTCTCCTCACTGACCCTGACCTCTCACTCGGTTCCTGTCTCTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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Search Results (Total: 10000 hits)