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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Select column to sort.

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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
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCACTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTAGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACTAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGTGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGCCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGGCATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0011 others(9): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0003c0004 a0003c0013 a0004c0005 a0005c0006 a0006c0012 a0007c0008 a0008c0007 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0003 a0001c0011t0001 a0002c0003t0004 a0003c0004t0001 a0003c0004t0006 a0003c0004t0007 a0003c0013t0006 a0004c0005t0001 a0005c0006t0004 a0006c0012t0001 a0007c0008t0001 a0008c0007t0001 a0010c0010t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(14): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0002t0003g0000 a0001c0011t0001g0000 a0002c0003t0004g0000 a0003c0004t0001g0000 a0003c0004t0006g0000 a0003c0004t0007g0000 a0003c0013t0006g0000 a0004c0005t0001g0000 a0005c0006t0004g0000 a0006c0012t0001g0000 a0007c0008t0001g0000 a0008c0007t0001g0000 a0010c0010t0001g0000	401	438	0.9155	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAGGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	438	0.0046	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCC TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCTTTTGAGA AGTATTGAGAGAAGTTGGATTATAGCATTATGGAGAAATCTGTAGCCCCA AAGCTGGAAAAATGGTAGGAGCTATTGAACCTCAGATTGGTATTGACCCC CACCGACCCTTCTTGCTGCCCATGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCATGGGCAGCAAGAAGGGTCGGTGGGGGTCAA TACCAATCTGAGGTTCAATAGCTCCTACCATTTTTCCAGCTTTGGGGCTA CAGATTTCTCCATAATGCTATAATCCAACTTCTCTCAATACTTCTCAAAA GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGTGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	438	0.0069	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCACAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GGTGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0000 a0002c0003t0004g0000	1	438	0.0023	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCACCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGACTTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGTATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02922.hp2 others(4): Show HG02615.hp1 HG02809.hp2 HG02922.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0009 a0002c0003 a0009c0009	a0002c0003t0004 a0009c0009t0004 a0002c0003t0004 a0009c0009t0004	a0002c0003t0004g0000 a0009c0009t0004g0000 a0002c0003t0004g0000 a0009c0009t0004g0000	7	438	0.0160	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATACTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAAGTC CCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(918): Show TTTTTCTTGCTGCCCAGATGGATCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAAGACGT CTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGT AATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGT AGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCT GACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCT GCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCAT GGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCC TTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGT AATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTT AACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAA TGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTT GGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTT CAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	925	c.-36 others(936): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAAC TCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCA ATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTA ACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTC TCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTC CCCTGTCTTGGTAAGTTTGATCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(918): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGATGGGGGTGGGGG GGTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGGGGG TGGGGGTGATGATGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGGGG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGG GGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0003 a0009c0006t0003	a0009c0006t0003g0185 a0009c0006t0003g0185	1	186	0.0054	925	c.956 others(942): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCATCATCACCCCCACCCCC ACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCC CCCACCCCCATCATCACCGTCATCACCCCCCCCACCCCCATCATCACCGT CATCACCCCTACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCA TCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MAP9_chr4_155337658_155381965	155349248	A A	ATTGTGAC others(918): Show ATTGTGACTAAGGCTTGGCAGAAGGCAGGAGACAAGAAACGGAAGAGGGG CACCAGGTGAGAAAAAAATGCATGAGGACTAAGATTATATGGGGCTTGGC AGGCCATGTTAACATGCAGAACTCAGGTAAAAGAATTCAACGAATGACAC AGAAGCCAGGCAGAGAAGTGAGGGGAACACCAGGGAAGCATGACAGCCAA AGGAGGTGACAGCTGCAGGATGAGGAAATCAACACTGTAGAATGCTGAGA TACTCTGAAATGGGACAGAAACACACAATAGACCGTCTAGATGCAAACCT GTAACTTTCAAAGTGTGATTTTGGTGTAGTGATGAGGACAAAGACAAAAC TGAAGTGGGAAGTGAATGAAAAGGATATAAGGAACTAAGGAAGTATAAGT AAAACTTTCTAGATGTTTCACTATAAAGAAAAGCAGACAAAAGTAGGCCC ACAGACAGAGAGAAATGCAGGCCCACAGACAGAGAGAAATGCAGAGTTCA GAGAGTGTATTTTTATGGAAGATTATGTATCCTGGAACATGATGGGAACA ATTCAGAACAGTAGAAATAATGATGATTCACAGAAGTGGAATGGTAAATT TATATTTTATTGCTTGATAGGGATAGTCCTACTTCATATTATTCTCATAT TATATCCCATATTTTTATTCCACAGATGAATTTGAGAATCATTTCATTTC CCTTCATGTCCTCCCGTCAAAGAAATAACTAAGTATCTGCGCCTAATACG CAGTCTAATACGTCTAATATGCAGATACTTAGTTATTTCTTTGACGGGAG GACATGAAGGGAAATGAAATGATTCTCAAATTCATCTGTGGAATAAAAAT ATGGGATATAATATTTTATAGTATAATAATACTTGAAATATTAGCAGGAT CTGGTCTTTCCATCTTACAACTTGGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0066 a0001c0002t0004g0066	1	416	0.0024	925	c.182 others(944): Show c.1822-1344_1822-1343insCCCAAGTTGTAAGATGGAAAGACCAG ATCCTGCTAATATTTCAAGTATTATTATACTATAAAATATTATATCCCAT ATTTTTATTCCACAGATGAATTTGAGAATCATTTCATTTCCCTTCATGTC CTCCCGTCAAAGAAATAACTAAGTATCTGCATATTAGACGTATTAGACTG CGTATTAGGCGCAGATACTTAGTTATTTCTTTGACGGGAGGACATGAAGG GAAATGAAATGATTCTCAAATTCATCTGTGGAATAAAAATATGGGATATA ATATGAGAATAATATGAAGTAGGACTATCCCTATCAAGCAATAAAATATA AATTTACCATTCCACTTCTGTGAATCATCATTATTTCTACTGTTCTGAAT TGTTCCCATCATGTTCCAGGATACATAATCTTCCATAAAAATACACTCTC TGAACTCTGCATTTCTCTCTGTCTGTGGGCCTGCATTTCTCTCTGTCTGT GGGCCTACTTTTGTCTGCTTTTCTTTATAGTGAAACATCTAGAAAGTTTT ACTTATACTTCCTTAGTTCCTTATATCCTTTTCATTCACTTCCCACTTCA GTTTTGTCTTTGTCCTCATCACTACACCAAAATCACACTTTGAAAGTTAC AGGTTTGCATCTAGACGGTCTATTGTGTGTTTCTGTCCCATTTCAGAGTA TCTCAGCATTCTACAGTGTTGATTTCCTCATCCTGCAGCTGTCACCTCCT TTGGCTGTCATGCTTCCCTGGTGTTCCCCTCACTTCTCTGCCTGGCTTCT GTGTCATTCGTTGAATTCTTTTACCTGAGTTCTGCATGTTAACATGGCCT GCCAAGCCCCATATAATCTTAGTCCTCATGCATTTTTTTCTCACCTGGTG CCCCTCTTCCGTTTCTTGTCTCCTGCCTTCTGCCAAGCCTTAGTCACAA	MAP9	ENSG00000164114.19	transcript	ENST00000311277.9	protein_coding	13/13			chr4	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(918): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATATTTATATTAAATATTATAT ATTTATATATTATTTATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATAATATATTTATATTGAATATTATATATTTATATAT TATATATAATATATTTATATTGAATATTATATATTTATATATTATATATA ATATATTTATATTGAATATTATATATTTATATATTATATATAATATATTT ATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGAA TATTATATATTTATATATTATATATAATATATTTATATTGAATATTATAT ATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	170	0.0059	925	c.166 others(944): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT ATTTATATTAAATATTATATATTTATATATTATTTATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATATATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATAATATATTTATATTG AATATTATATATTTATATATTATATATAATATATTTATATTGAATATTAT ATATTTATATATTATATATAATATATTTATATTGAATATTATATATTTAT ATATTATATATAATATATTTATATTGAATATTATATATTTATATATTATA TATAATATATTTATATTGAATATTATATATTTATATATTATATATAATAT ATTTATATTGAATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(918): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAC AGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGC CCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCAC TCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACA GAGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCC CCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCGAGTC CGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCC CCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAG AGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCTCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0021 a0021	a0021c0068 a0021c0068	a0021c0068t0006 a0021c0068t0006	a0021c0068t0006g0145 a0021c0068t0006g0145	1	324	0.0031	925	c.140 others(942): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGG GCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTG TGGGGACGGACTCGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGA GGGACTGGGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGT GGGGGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGC TCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGA CTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTTGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACT GGGGGGGTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(918): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0154 a0001c0013t0004g0154	1	324	0.0031	925	c.140 others(942): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(918): Show CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACC CACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACA GAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGAGCATCTCAC GCCGGCGAGCAGGTCCCCCCTGACCACGGTGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATC TCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGTGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCACAGGCAGGCCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCG ACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	242	0.0041	925	c.361 others(944): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCGGGGGGGCCTGCCTGTGGGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT CGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCTCGCCCGTGTGAGATGCACCGTGGTCAGGGGGGACCTGCTCGCCGGC GTGAGATGCTCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTC TGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAIP1_chr5_43521267_43562077	43541207	C C	CTCCGCCT others(918): Show CTCCGCCTCCCGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGCTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTTG TAGAGACAGGGTTTCCAGGTTAGCCAGGATGGTCTCGGTCTCCTGACCTC GTGATCCGCCTGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCAGCCCATTCCAAGTATTTTTATAAAGATACTAGTCGGCCG GGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGG GCGGATCACCAGGTCAGCAGATCGAGACCATCCTGGCTAACACGGTGAAA CTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGT GCCTGTAGTCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATGCTGTGAAC GGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCGCCACTGCACTCCAGCC TGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATACTAGTTTTTTTCTTACTCATTCCCAAGAGGC CCCTCTTTTCGTATTAAATAAATAAGCTCATTGCCATGTGTTATACACTA TCTGATTTTTACTTCATAAATGTATGCCTTCCCCCCAAAATGCTGCAATC CATATGTAACTAAATGTATTAATCTCTTGTTTTAGGGCCTGTGGGTATCA TGTCTTGTTTAAAAGGTCTTTACCATGCCAAGATTTCTGTTTACTTGCCA ATTTCCCACTTAGCATTTATCATTTCAACTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GTGTGATCCGGGCTCACACTGCAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19030.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0034 a0001c0001t0005g0032 a0001c0001t0005g0034	2	350	0.0057	925	c.734 others(942): Show c.734+1796_734+1797insCCTTGCAGTGTGAGCCCGGATCACACCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGTTGAAATGATAAATGCTAAGTGGGAAATTG GCAAGTAAACAGAAATCTTGGCATGGTAAAGACCTTTTAAACAAGACATG ATACCCACAGGCCCTAAAACAAGAGATTAATACATTTAGTTACATATGGA TTGCAGCATTTTGGGGGGAAGGCATACATTTATGAAGTAAAAATCAGATA GTGTATAACACATGGCAATGAGCTTATTTATTTAATACGAAAAGAGGGGC CTCTTGGGAATGAGTAAGAAAAAAACTAGTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCCAGG CTGGAGTGCAGTGGCGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCGT TCACAGCATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGACTACAGGCAC GCCCGCCACCAGGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTGGTGATCCGCCC GTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCG GCCGACTAGTATCTTTATAAAAATACTTGGAATGGGCTGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCAGGCGGATCACGA GGTCAGGAGACCGAGACCATCCTGGCTAACCTGGAAACCCTGTCTCTACA AAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGGGTGAACCCGGGAGGCGGA	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43541207	C C	CTCCGCCT others(918): Show CTCCGCCTCCCGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGCTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTTG TAGAGACAGGGTTTCCAGGTTAGCCAGGATGGTCTCGGTCTCCTGACCTC GTGATCCGCCTGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCAGCCCATTCCAAGTATTTTTATAAAGATACTAGTCGGCCG GGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGG GCGGATCACCAGGTCAGCAGATCGAGACCATCCTGGCTAACACGGTGAAA CTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGT GCCTGTAGTCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATGCTGTGAAC GGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCGCCACTGCACTCCAGCC TGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGATACTAGTTTTTTTCTTACTCATTCCCAAGAGGCC CCTCTTTTCGTATTAAATAAATAAGCTCATTGCCATGTGTTATACACTAT CTGATTTTTACTTCATAAATGTATGCCTTCCCCCCAAAATGCTGCAATCC ATATGTAACTAAATGTATTAATCTCTTGTTTTAGGGCCTGTGGGTATCAT GTCTTGTTTAAAAGGTCTTTACCATGCCAAGATTTCTGTTTACTTGCCAA TTTCCCACTTAGCATTTATCATTTCAACTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GTGTGATCCGGGCTCACACTGCAAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	350	0.0029	925	c.734 others(942): Show c.734+1796_734+1797insCCTTGCAGTGTGAGCCCGGATCACACCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGTTGAAATGATAAATGCTAAGTGGGAAATT GGCAAGTAAACAGAAATCTTGGCATGGTAAAGACCTTTTAAACAAGACAT GATACCCACAGGCCCTAAAACAAGAGATTAATACATTTAGTTACATATGG ATTGCAGCATTTTGGGGGGAAGGCATACATTTATGAAGTAAAAATCAGAT AGTGTATAACACATGGCAATGAGCTTATTTATTTAATACGAAAAGAGGGG CCTCTTGGGAATGAGTAAGAAAAAAACTAGTATCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCCAGG CTGGAGTGCAGTGGCGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCGT TCACAGCATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGACTACAGGCAC GCCCGCCACCAGGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTGGTGATCCGCCC GTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCG GCCGACTAGTATCTTTATAAAAATACTTGGAATGGGCTGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCAGGCGGATCACGA GGTCAGGAGACCGAGACCATCCTGGCTAACCTGGAAACCCTGTCTCTACA AAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGGGTGAACCCGGGAGGCGGA	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(918): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTATGTATGGTGT GTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGTGTAGTGTGTGTGTG TAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTGTATGTGGCATGTAT GGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAGGGGGTATATGTGGT GCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTGTGTGGTGTATGTGG CTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCATGGTGTGTATGGTG TGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGGCCATGTGTGTGGTG TATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTGTATGGCG TGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGTAGTGTATGGT GTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTATGGTATGTGTGTC ATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTGGTGTATGTGGCATG CACAGGATATGTGGTGGTGTGTGTGTGCTATGTATGGTGTGTGTGTTGTG TATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATGTGTGTGGTGTATGT GGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTGTATTGTGTGGTG TGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTGGTGTGGGAGGCAAG TGTACTGTATGTGGCATGCATGGGATGTGTGGTGTTGTGTATGTGGTGTG TATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTGGTGTGTATGGTGTG GTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG02809.hp1 others(10): Show HG01099.hp2 HG02257.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG06807.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0006c0010	a0001c0001t0001 a0002c0002t0002 a0004c0006t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0004c0006t0001 a0006c0010t0002 a0006c0010t0005	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(10): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0002c0002t0002g0045 a0002c0002t0002g0172 a0004c0006t0001g0169 a0004c0006t0001g0170 a0004c0006t0001g0173 a0004c0006t0001g0174 a0004c0006t0001g0175 a0004c0006t0001g0176 a0006c0010t0002g0040 a0006c0010t0005g0042	13	314	0.0414	925	c.671 others(942): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCATACACACCACATACACGCCACGCATGCCATACACACC ACACACTCCCGCACACCACATACACACCCCTCACACTACACATGCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(918): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACAACCTCCCCCTGCATACCCCACAACC TCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCT GCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACC CCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTC TCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTG CACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCCCCACAC ACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCAC CCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCC CCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACA CCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCAT CTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0005 a0007c0010t0005	a0007c0010t0005g0113 a0007c0010t0005g0113	1	210	0.0048	925	c.147 others(942): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACAACCTCCCCCTGCATACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCT GCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACC CCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTC CCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCAC ACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCAT CTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCC CCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACA CCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(918): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTG ATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	374	0.0027	925	c.-46 others(936): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTG ATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGTGATAATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGT GATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGG TAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTG GTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATG GTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(918): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATAT AAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGCATATAATATATAATACATAATACATTAT ATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	220	0.0046	925	c.24+ others(942): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATATGTAATACACAATATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTA ATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTAT TATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAAT ATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79554353	C C	CACCTGGC others(918): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC TCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTC TCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	154	0.0065	925	c.-32 others(946): Show c.-320+56472_-320+56473insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGG GGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG T	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554408	C C	CTCACTCA others(918): Show CTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTC ACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGG CCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCT CACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCC CTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCA CTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCC CTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCT CTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACT CACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCC GACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	154	0.0065	925	c.-32 others(946): Show c.-320+56417_-320+56418insAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG TCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTG TGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGG AGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTG AGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTG AGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAG AGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAG GGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAG TGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAG GGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGG GTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTG A	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(918): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGTCACC CCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCC CGACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTC TCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	154	0.0065	925	c.-32 others(946): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGG GCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTG ACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG T	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(918): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTC ACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC TCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTC TCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	154	0.0065	925	c.-32 others(946): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG T	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668881	T T	TCCCTCAC others(918): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCTCTCTCCTTCCCTCTCCCC CACCCTCCCTCTCCCTCTCCCTCATTCTCCCTCAGCCTCCCTCTCCCTCT CCCTTCACCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCT CCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCT CCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCC CTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCATCTCCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCA CCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCTCTCTCCTTCCCTCTCCCTCACCCTCCCTCTCCCCTCAT CCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	262	0.0038	925	c.249 others(944): Show c.2495+1702_2495+1703insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAAGGAGAGAGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGG TGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT GAGGGGAGATGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAG GGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAG GGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGG GGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG GAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGG GGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGG AGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGAGAGGG AGGGTAAGGGAGAGGGAGGGTGAAGGGAGAGGGAGAGGGAGGGTGAAGGG AGAGGGAGAGGGAGGCTGAGGGAGAATGAGGGAGAGGGAGAGGGAGGGTG GGGGAGAGGGAAGGAGAGAGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAG GAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(918): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CATCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAA ACCTCCCGCCCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0001 a0000c0014t0001	a0000c0014t0001g0002 a0000c0014t0001g0002	1	203	0.0049	925	c.167 others(940): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGATGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAG GAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGG GGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTT CTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(918): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01074.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0064 a0001c0001t0002g0069	2	322	0.0062	925	c.597 others(942): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(918): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0187 a0001c0001t0012g0187	1	322	0.0031	925	c.597 others(942): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(918): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTG GTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGG GGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAG GAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGGG GTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGAT GAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAG TGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAC TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTGA GGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGGGGTGAGGGGGTGAGT GAGGAGGTGAGCGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	382	0.0026	925	c.728 others(942): Show c.728-1335_728-1334insCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCACCCCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTC ACCCCCTCACTCACCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGT CACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCA CCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACT CACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCAT CCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCTCACTCACCC CTTCGCCCCCTCACTCACCCCCTCACTCCCTCAACCCTCACTCACCTCCT CACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCCC CTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACCA CCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACCC CCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCAA CCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTCA CTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACTT ACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCATT CACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCCC TTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATGC CTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCCC TCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(918): Show AGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGA GGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGTCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAT GGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	925	c.48 others(936): Show c.4818_*4819insCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ATCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGG TCTCCCTAACCCCGGCCTTCCTAACCCCCAGACTCCCTACCCTGGCCTCC CTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCC TAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTT GGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(918): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTG TGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTG TATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTG TATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTA TGTGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTG TGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATA TGTGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTG TATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTGTATG TGTGTGTATATGATGTGAGTGTATATGCGTGTGTATATGCGTGTGTATAT GCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGC GTGTGTGTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	468	0.0021	925	c.-6- others(940): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGT ATGTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGT GTATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGT GTGTACGTGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGT GTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGT ATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGT GTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATAT GTGTGTGTATATGTGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGT ATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTAT GTGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGTATATG CGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATA TGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975241	T T	TTATAAAT others(919): Show TTATAAATATATAAATATATAAATATTTATATATTTATAAATATATAAAT ATATAAATATTTATATATTTATAAATATATAAATATATAAATATTTATAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATATAAATATTTATATAT TTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAAT ATATATATATAAATATTTATATATTTATAGATAAATATATAAATATATAT ATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGAT AAATATATAAATATATAAATATTTATATATTTATATATAAATATATAAAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAA ATATATAAATATTTATATATTTATAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	306	0.0033	926	c.130 others(945): Show c.1308+1335_1308+1336insTCTATAAATATATAAATATTTATATA TTTATCTATAAATATATAAATATTTATATATTTATAGATAAATATATAAA TATTTATATATTTATATATAAATATATAAATATTTATATATTTATATATT TATCTATAAATATTTATATATTTATATATTTATCTATAAATATATAAATA TATATATATTTATATATTTATCTATAAATATATAAATATTTATATATATA TATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTATA AATATATAAATATTTATATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATATAAATATTTATATATTTATATATTTATAAATATATAAATATTTATA TATTTATATATTTATAAATATATAAATATTTATATATTTATATATTTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(919): Show TAAATATATAAATATTTATATATTTATAAATATATAAATATATAAATATT TATATATTTATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTATATATTTA TAGATAAATATATATATATAAATATTTATATATTTATAGATGAATATATA AATATATATATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATAGATAAATATATAAATATATAAATATTTATATATTTATCTATAAA TATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	306	0.0033	926	c.130 others(945): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATAT ATTTATAGATAAATATATAAATATTTATATATTTATATATTTATCTATAA ATATTTATATATTTATATATTTATCTATAAATATATAAATATATATATAT TTATATATTCATCTATAAATATATAAATATTTATATATATATATTTATCT ATAAATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATATAAATATTTATATAT TTATCTATAAATATATAAATATTTATATATTTATATATTTATAAATATAT AAATATTTATATATTTATATATTTATAAATATATAAATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(919): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0055 a0055	a0055c0088 a0055c0088	a0055c0088t0004 a0055c0088t0004	a0055c0088t0004g0076 a0055c0088t0004g0076	1	360	0.0028	926	c.170 others(947): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGA GGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAC others(919): Show AGACCCACACACCCATACACACACCAGACCCCCACACCCCCACACCCATA CACACACACCCACACCCACACCCACCACACACACCCACACCCCCACACAC ACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACACACC CCCTCACACACCCACACCCACCACACACCCCCACCACACCCACATACACC CACACCCCCACCACACACCCATACACACACCCCCACATACTAATACACAC ACACCCCCACACCCTCCCACCCCCCCACACCCCCACCACACACCAATACA CACCCACACACCCCCTCACACACACACCCACACACCCATACACACACCCA CCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTCCCCCCA CTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACC CCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCC CACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACACA CACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACAC CCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCA TACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCC ACCACACACCCATACACACACACCCACACACACACCACACCCATACACAC ACATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0210 a0001c0003t0010g0210	1	248	0.0040	926	c.387 others(945): Show c.3871-3767_3871-3766insGGGGGGGTTGGGGTGTGTATGGGTGT GTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGGGGGTATG TGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGTGTGTGG TGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGT ATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAG GGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGT GTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGG GGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGT GTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGT GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGA GTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGGTGTGTG GTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGT GTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGGGTG TGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGTGT GGGTGTATGTGGGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGTGAGG GGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGGGAGGG TGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGTGTGT GTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTGTGTGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1464707	C C	CTGGAGAA others(919): Show CTGGAGAAGAGGGTGGACACACACTCCCCCACACACATGCGCTGGGGGCA GTCACAGCGGGCAGTGCGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTGG ACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGCGGGCAGTGCG CCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGACAGT CACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACAC ATGCGCTGGGGGCAGTCACAGCGGGCAGCGTGCTGGAGAAGACGGTGGAC ACACACTCCCCCGCACACGCGCTGGGGGCAGTCACAGCGGGCAGCGCGCT GGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCAGTCA CAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACACAC ATGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAGGGTGGAC ACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCT GGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGTCA CAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACAC GCGCTGGGGACAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACAC ACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGG AGAAGAGGGTGGACACACACTCCCCCGCACACGCGCTGGGGGCAGTCACA GCAGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGC GCTGGGGACAGTCACAGCGGGCAGCGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	1	106	0.0094	926	c.101 others(945): Show c.101-85548_101-85547insACGCTGCCCGCTGTGACTGTCCCCAG CGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCTG CTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACTGTCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCT GTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCAGCGCACTGCCCGCTGTGACTGCCCCCAGCGCA TGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCT GTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CAGCGCGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTG TGTCCACCGTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCGCA TGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGT GACTGTCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCG GCGCACTGCCCGCTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTG TCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTG TGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGCACTGCCCGCTGTGA CTGCCCCCAGCGCATGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ASAP2_chr2_9201812_9410678	9400231	C C	CCCTCCCC others(919): Show CCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCT CCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTC CTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGC CCCCTCCCCTCCTGCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	210	0.0048	926	c.273 others(943): Show c.2734+174_2734+175insTCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCC CTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCC TCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCCCTTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGT ACCCCTCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCT CCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCC TCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNL2_chr1_1380711_1404335	1382625	A A	ACCCTTCC others(919): Show ACCCTTCCCAACAATCCAGTAACAATCCAGAGGCCACCACCCCTTCCCAA CAATCCAGTAACAATCCAGAGGTCACCACCCCTTCCCAACAATCCAGTAA CAATCCAGAGGTCACCACCCTTCCCAACAATCCAGTAACAATCCAGAGGT CACCACCCTTCCCAACAATCCAGTAACAATCCAGAGGTCACCACCCCTTC CCAACAATCCACTAACAATCCAGAGGTCACCACCCCTTCCCAACAATCCA GTAACAATCCAGAGGTACCACCCCTTCCCAACAATCCAGTAACAATCCAG AGGTCACCACCCTTTCCAACAATCCACTAACAATCCAGAGGTCACCACCC CTTCCCAACAATCCAGTAACAATCCAGAGGTCACCACCCCTTCCCAACAA TCCAGTAACAATCCAGAGGTTACCACCCTTCCCAACAATCCACTAACAAT CCAGAGGCCACCACCCCTTCCCAACAATCCGGCAAGGACCCAGAGGCCAC CACCCCTTCCCAACAATCCAGTAACAATCCAGAGGTTACCACCCTTCCCA ACAATCCACTAACAATCCAGAGGCCACCACCCCTTCCCAACAATCCGGCA AGGACCCAGAGGCCACCACCCCTTCCCAACAATCCAGTAACAATCCAGAG GTCACCACCCCTTCCCAAAAATCCAGTAACAATCCAGAGGTCACCACCCC TTCCCAACAATCCAGTAACAATCCAGAGGCCACCACCCCTTCCCAACAAT CCAGTAACAATCCAGAGGTACCACCCCTTCCCAACAATCCAGTAACAATC GAGGCCACCACCCCTTCCCAACAATCCAGTAACAATCCAGAGGACACCAC CCTTCCCAACAATCCACTAGCAATCCAGAGGCCACCACCCCTTCCCAACA ATCTGGCAACGACCCAGAGGCCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19085.hp2 NA19060.hp1 NA19085.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0001 a0009c0008t0001g0049 a0001c0001t0001g0001 a0009c0008t0001g0049	2	370	0.0054	926	c.46 others(937): Show c.4605_*4606insGTGGTGGCCTCTGGGTCGTTGCCAGATTGTTGGG AAGGGGTGGTGGCCTCTGGATTGCTAGTGGATTGTTGGGAAGGGTGGTGT CCTCTGGATTGTTACTGGATTGTTGGGAAGGGGTGGTGGCCTCGATTGTT ACTGGATTGTTGGGAAGGGGTGGTACCTCTGGATTGTTACTGGATTGTTG GGAAGGGGTGGTGGCCTCTGGATTGTTACTGGATTGTTGGGAAGGGGTGG TGACCTCTGGATTGTTACTGGATTTTTGGGAAGGGGTGGTGACCTCTGGA TTGTTACTGGATTGTTGGGAAGGGGTGGTGGCCTCTGGGTCCTTGCCGGA TTGTTGGGAAGGGGTGGTGGCCTCTGGATTGTTAGTGGATTGTTGGGAAG GGTGGTAACCTCTGGATTGTTACTGGATTGTTGGGAAGGGGTGGTGGCCT CTGGGTCCTTGCCGGATTGTTGGGAAGGGGTGGTGGCCTCTGGATTGTTA GTGGATTGTTGGGAAGGGTGGTAACCTCTGGATTGTTACTGGATTGTTGG GAAGGGGTGGTGACCTCTGGATTGTTACTGGATTGTTGGGAAGGGGTGGT GACCTCTGGATTGTTAGTGGATTGTTGGAAAGGGTGGTGACCTCTGGATT GTTACTGGATTGTTGGGAAGGGGTGGTACCTCTGGATTGTTACTGGATTG TTGGGAAGGGGTGGTGACCTCTGGATTGTTAGTGGATTGTTGGGAAGGGG TGGTGACCTCTGGATTGTTACTGGATTGTTGGGAAGGGTGGTGACCTCTG GATTGTTACTGGATTGTTGGGAAGGGTGGTGACCTCTGGATTGTTACTGG ATTGTTGGGAAGGGGTGGTGACCTCTGGATTGTTACTGGATTGTTGGGAA GGGGTGGTGGCCTCTGGATTGTTACTGGATTGTTGGGAAGGG	CCNL2	ENSG00000221978.13	transcript	ENST00000400809.8	protein_coding		3085		chr1	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(919): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGGTGATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGAT GATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGA TGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGATGATGA TGGTGATGATGATGATGGTGGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGAGGATGATGATGATGGTGATGATGATGGTGGTGATGATGGT GATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGGTGA TGATGATGATGGTGATGATGGTGATGATGGTGATGGTTATGATGGTGATG GTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGAT GATGATGATGAGGAGGATGATGATGGTGATGATGATGGTGATGACGATGA TGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATG ATGATGAGGATGGTGATGATGGTGATGGTGATGATGATGGTGAGGATGGT GATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGA TGATGATGGTGATGATGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGATGAT GATGGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(30): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02293.hp1 HG02451.hp2 HG02602.hp2 HG02630.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp1 NA18964.hp2 NA18993.hp2 NA19087.hp1 NA19089.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0004c0004t0003 a0004c0004t0021	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(29): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0312 a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0003g0055 a0001c0001t0003g0282 a0001c0001t0019g0106 a0004c0004t0003g0119 a0004c0004t0003g0184 a0004c0004t0003g0185 a0004c0004t0003g0192 a0004c0004t0003g0193 a0004c0004t0021g0152	33	320	0.1031	926	c.937 others(941): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGGTGATGATGGTGATGATGATGGTGAT GGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGA TGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGGTGATG ATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGATGAT GATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGA TGATGGTGATGATGGTGATGATGATGATGGTGATGATGGTGATGATGGTG ATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGT GATGGTGATGATAAGGATGATGATGATGAGGAGGATGATGATGGTGATGA TGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTG ATTGTGATGATGGTGATGATGATGAGGATGGTGATGATGGTGATGGTGAT GATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGA TGGTGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGGT GATTATGATGATGATGATGATGGTGATGATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(919): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGG GAGGGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGG AGGGGGAGGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGG GGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG GAGACAGAGGGGAGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	216	0.0046	926	c.923 others(945): Show c.923-33074_923-33073insCCTCCCCTCCCCCCTCCCCTCTGTCT CCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCC CTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCCTCCCCC TCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCCT CCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATT CCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCATCCCC others(919): Show CCATCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCCACACCC CCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACACCCCCACAT CCCCCCACACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCAA ATCCCCCACACCCCCCACACCCCCACACACCCCCCACATCCCCCACACCT CCCACACCCCCACACACCCCCCACACCACACATCCCCCACATCCCCCACA CCCCCCACACCCCCCACACCCCCACACACCCCCCACATCCCCCACACCTC CCACACCCCCACACACCCCCCACACCACACATCCCCCACATCCCCCACAC CCCCCACACCCCCCACACCACAAATCCCCCACATCCCCCACACCCCCCAC ATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCC CACATCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCACACCA CAAATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACACATCC CCCACACCCCCCACATCCCCCACACCACAAATCCCCCACACCCCCCACAC CCCCCACACCACAAATCCCCCACATCCCCCACACCCCCCACATCCCCCAC ACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCC CACACCACACATCCCCCACACCCCCCACATCCCCCACACCACAAATCCCC CACACCTCCCCCATCCCCCACACCCCCCCACACCCCCCACACCACAAATC CCCCACATCCCCCACATCCCCCACACACCCCCCACATCCCCCCACACCCC CCACACCCACACACACCCCCCACACCACAAATCCCCCACACCCCCCACAT CCCCCACACCCCCACACACCCCCCACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0019 a0001c0003t0003g0019	1	116	0.0086	926	c.207 others(945): Show c.2073+1464_2073+1465insATCCCCCACATCCCCCACACCCCCCA CACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCA CATCCCCCACACACCCCCACATCCCCCCACACCCCCCACACCCCCCACAC CACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCACAC ACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCACACA CCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAAATCCC CCACATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCAC ACCACACATCCCCCACACCCCCCACATCCCCCACACCACAAATCCCCCAC ACCCCCCACATCCCCCACACCACAAATCCCCCACATCCCCCACACCCCCC ACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCAC AAATCCCCCACACCCCCCACACCCCCCACACCACAAATCCCCCACATCCC CCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACATCCCCCACACCACACATCCCCCACACCCCCCAC ATCCCCCACACCACAAATCCCCCACACCTCCCCCATCCCCCACACCCCCC CACACCCCCCACACCACAAATCCCCCACATCCCCCACATCCCCCACACAC CCCCCACATCCCCCCACACCCCCCACACCCACACACACCCCCCACACCAC AAATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHMT1_chr9_137614005_137841127	137716419	T T	TTGGTGTC others(919): Show TTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	170	0.0118	926	c.86- others(939): Show c.86-196_86-195insGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGAA others(919): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCGGGAGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAAGTCAAAGGTGGGCGGGAGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAAGTCAAAGGTGGGCCAGGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0176 a0001c0001t0009g0176	1	308	0.0033	926	c.157 others(941): Show c.1576+61_1576+62insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTAGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGG CCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCG GGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCGGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCAGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586451	G G	GGGGGGGA others(919): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA ATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCGGGGGGGGGA ATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAATGGAGGAGA GGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0115 a0002c0002t0018g0115	1	308	0.0033	926	c.157 others(943): Show c.1576+257_1576+258insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGG TGGGCGGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAS6_chr13_113815549_113869076	113824129	C C	CTGCGGTC others(919): Show CTGCGGTCTGGGATCTGAGCTGTCAGGAGCACCTGCGGTCTGGGGTCTGA GCTGTCAGGAGCACCCGCGGTCTGAGTTCTGAGCTGTCAGGAGCACCCGC GGTCTGAGTTCTGAGCTGTCAGGAGCACCCGCGGTCTGGGATCTGAGCTG TCAGGAGCACCTGCGGTCTGGGATCTGAGCTGTCAGGAGCACTTGCGGTC TGGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAG GAGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACCCGCGGTCTGGG GTCTGAGCTGTCAGGAGCACCTGCGGTCTGAGTTCTGAGCTGTCAGGAGC ATGCACGGTCTGGGATCTGAGCTGTCAGGAGCACGCGCGGTCTGGGATCT GAGCTGTCAGGAGCACTGTGGTCTGGGGTCTGAACTGTCAGGAGCATGCG CGGTCTGGGGTCTGAACTGTCAGGAGCATGCGCGGTCTGGGGTCTGAGCT GTCAGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCTGCGGT CTGAGTTCTGAGCTGTCAGGAGCATGCGCGGTCTGGGGTCTGAGCTGTCA GGAGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACGCGCGGTCTGG GATCTGAGCTGTCAGGAGCACTGTGGTCTGGGGTCTGAACTGTCAGGAGC ATGCGCGGTCTGGGGTCTGAACTGTCAGGAGCATGCGCGGTCTGGGGTCT GAGCTGTCAGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCT GCGGTCTGGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGC TGTCGGGAGCACGCAAGGTCTGGGATCTGAGCTGTCGGGAGCACCGTGGT CTGGGGTCTGAGCTGTCGGGAGCACCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0003 a0007c0014t0003	a0007c0014t0003g0002 a0007c0014t0003g0002	1	143	0.0070	926	c.147 others(943): Show c.1478-580_1478-579insAGGTGCTCCCGACAGCTCAGACCCCAGA CCACGGTGCTCCCGACAGCTCAGATCCCAGACCTTGCGTGCTCCCGACAG CTCAGACCCCAGACCGCGCGTGCTCCTGACAGCTCAGACCCCAGACCGCA GGTGCTCCTGACAGCTCAGACCCCAGACCGCAGGTGCTCCTGACAGCTCA GACCCCAGACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGCGCATG CTCCTGACAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCAGATCC CAGACCGCGCGTGCTCCTGACAGCTCAGATCCCAGACCGCGCGTGCTCCT GACAGCTCAGACCCCAGACCGCGCATGCTCCTGACAGCTCAGAACTCAGA CCGCAGGTGCTCCTGACAGCTCAGACCCCAGACCGCAGGTGCTCCTGACA GCTCAGACCCCAGACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGC GCATGCTCCTGACAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCA GATCCCAGACCGCGCGTGCTCCTGACAGCTCAGATCCCAGACCGTGCATG CTCCTGACAGCTCAGAACTCAGACCGCAGGTGCTCCTGACAGCTCAGACC CCAGACCGCGGGTGCTCCTGACAGCTCAGATCCCAGACCGCGCGTGCTCC TGACAGCTCAGACCCCAGACCGCGCGTGCTCCTGACAGCTCAGACCCCAG ACCGCAAGTGCTCCTGACAGCTCAGATCCCAGACCGCAGGTGCTCCTGAC AGCTCAGATCCCAGACCGCGGGTGCTCCTGACAGCTCAGAACTCAGACCG CGGGTGCTCCTGACAGCTCAGAACTCAGACCGCGGGTGCTCCTGACAGCT CAGACCCCAGACCGCAGGTGCTCCTGACAGCTCAGATCCCAGACCGCA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(919): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0202 a0002c0002t0006g0202	1	268	0.0037	926	c.-28 others(937): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTAT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
HBQ1_chr16_175459_186179	186085	G G	GGAGGAAC others(919): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	926	c.49 others(937): Show c.4977_*4978insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACAC GGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4907		chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(919): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG TGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0036 a0002c0003t0003g0036	1	334	0.0030	926	c.369 others(943): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(919): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG TGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01993.hp1 others(3): Show HG00642.hp2 HG01070.hp2 HG01993.hp1 HG01993.hp2 HG02523.hp1 NA19086.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0003 a0021c0034 a0001c0001 a0002c0003 a0021c0034	a0001c0001t0003 a0002c0003t0003 a0021c0034t0003 a0001c0001t0003 a0002c0003t0003 a0021c0034t0003	a0001c0001t0003g0038 a0002c0003t0003g0011 a0002c0003t0003g0015 others(3): Show a0001c0001t0003g0038 a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0020 a0002c0003t0003g0028 a0021c0034t0003g0010	6	334	0.0180	926	c.369 others(943): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar

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